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Information on EC 1.1.1.178 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
for references in articles please use BRENDA:EC1.1.1.178
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EC Tree 1 Oxidoreductases
1.1 Acting on the CH-OH group of donors
1.1.1 With NAD+ or NADP+ as acceptor
1.1.1.178 3-hydroxy-2-methylbutyryl-CoA dehydrogenase
IUBMB Comments
Also acts, more slowly, on (2S,3S)-2-hydroxy-3-methylpentanoyl-CoA.
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota
- 1.1.1.178
- l-3-hydroxyacyl-coa
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2-methyl-3-hydroxybutyric
- hyperinsulinism
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tiglylglycine
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hydroxyacyl-coas
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choreoathetosis
- medicine
- lchad
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kcnj11
- 2-methylacetoacetate
Reaction Schemes
showSynonyms
hsd10, schad, 17beta-hsd10, 2-methyl-3-hydroxybutyryl-coa dehydrogenase, 17beta-hydroxysteroid dehydrogenase type 10, short chain 3-hydroxyacyl-coa dehydrogenase, 3-hydroxyacyl-coa dehydrogenase type ii, 3-hydroxy-2-methylbutyryl-coa dehydrogenase, hadii, short-chain l-3-hydroxy-2-methylacyl-coa dehydrogenase, more
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SYNONYM 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
17beta-hydroxysteroid dehydrogenase type 10
2-methyl-3-hydroxy-butyryl CoA dehydrogenase
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2-methyl-3-hydroxybutyryl coenzyme A dehydrogenase
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dehydrogenase, 2-methyl-3-hydroxybutyryl coenzyme A
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HADII
HSD10
SCHAD
short chain 3-hydroxyacyl-CoA dehydrogenase
type II 3-hydroxyacyl-CoA dehydrogenase
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REACTION
REACTION DIAGRAM
COMMENTARY
ORGANISM
UNIPROT
LITERATURE
(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH + H+
inducible by tiglate
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(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH + H+
inducible by tiglate
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(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+ = 2-methylacetoacetyl-CoA + NADH + H+
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
oxidation
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redox reaction
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reduction
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PATHWAY SOURCE
PATHWAYS
MetaCyc
2-methyl-branched fatty acid beta-oxidation, L-isoleucine degradation I, propanoate fermentation to 2-methylbutanoate
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SYSTEMATIC NAME
IUBMB Comments
(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA:NAD+ oxidoreductase
Also acts, more slowly, on (2S,3S)-2-hydroxy-3-methylpentanoyl-CoA.
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CAS REGISTRY NUMBER
COMMENTARY
52227-66-4
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SUBSTRATE
PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
Reversibility
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
2-methyl-3-hydroxybutyryl-CoA
2-methyl-acetoacetyl-CoA
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Substrates: among the best substrates
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH + H+
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Substrates: -
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2-hydroxy-3-methylpentanoyl-CoA + NAD+
3-methyl-2-oxopentanoyl-CoA + NADH
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Substrates: -
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2-hydroxy-3-methylpentanoyl-CoA + NAD+
3-methyl-2-oxopentanoyl-CoA + NADH
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Substrates: -
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: -
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: -
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: -
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: -
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3-hydroxybutyryl-CoA + NAD+
acetoacetyl-CoA + NADH
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Substrates: -
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3-hydroxybutyryl-CoA + NAD+
acetoacetyl-CoA + NADH
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Substrates: -
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3-hydroxybutyryl-CoA + NAD+
acetoacetyl-CoA + NADH
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Substrates: -
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additional information
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Substrates: genetic deficiency of enzyme activity leads to neurodegenerative disease, that can be lessened by dietary isoleucine restriction, detection of high urinary levels of 2-methyl-3-hydroxybutyryl-CoA and tiglyl-glycine
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additional information
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Substrates: inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
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additional information
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Substrates: acts on a wide spectrum of substrates, including steroids, cholic acids, and fatty acids, with a preference for short chain methyl-branched acyl-CoAs
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NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
LITERATURE
COMMENTARY
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
r=reversible
ir=irreversible
?=not specified
2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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?
2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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?
2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: isoleucine metabolism
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2-methyl-3-hydroxybutyryl-CoA + NAD+
2-methylacetoacetyl-CoA + NADH
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Substrates: -
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additional information
?
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Substrates: genetic deficiency of enzyme activity leads to neurodegenerative disease, that can be lessened by dietary isoleucine restriction, detection of high urinary levels of 2-methyl-3-hydroxybutyryl-CoA and tiglyl-glycine
Products: -
Products: -
?
additional information
?
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Substrates: inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
Products: -
Products: -
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COFACTOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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INHIBITOR
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
1-azepan-1-yl-2-phenyl-2-(4-thioxo-1,4-dihydro-pyrazolo[3,4-d]pyrimidin-5-yl)-ethanone
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specific inhibitor of SCHAD, forms a covalent adduct with NAD+ by a catalytic suicide mechanism
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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
17?-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Bile acylcarnitine profiles in pediatric liver disease do not interfere with the diagnosis of long-chain fatty acid oxidation defects.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Hydroxysteroid (17?) dehydrogenase X in human health and disease.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17beta-hydroxysteroid dehydrogenase 10 deficiency.
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
[Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency]
3-hydroxyacyl-coa dehydrogenase deficiency
[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency]
Acidosis
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Alzheimer Disease
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Alzheimer Disease
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Alzheimer Disease
Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics.
Alzheimer Disease
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Alzheimer Disease
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
Alzheimer Disease
HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids.
Alzheimer Disease
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Alzheimer Disease
Lateralization of 17beta-hydroxysteroid dehydrogenase type 10 in hippocampi of demented and psychotic people.
Alzheimer Disease
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Alzheimer Disease
Undetectable Levels of CSF Amyloid-? Peptide in a Patient with 17?-Hydroxysteroid Dehydrogenase Deficiency.
Ancylostomiasis
Hookworm larval infectivity, arrest and amphiparatenesis: the Caenorhabditis elegans Daf-c paradigm.
Brain Diseases
17?-Hydroxysteroid dehydrogenases and neurosteroid metabolism in the central nervous system.
Brain Diseases
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Cardiomyopathies
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Cardiomyopathies
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Cardiomyopathies
Mutation or knock-down of 17?-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Cerebral Palsy
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
Colorectal Neoplasms
17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Congenital Hyperinsulinism
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Diabetes Mellitus, Type 2
The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study.
Down Syndrome
Intracellular oxidation of allopregnanolone by human brain type 10 17beta-hydroxysteroid dehydrogenase.
Drug Resistant Epilepsy
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Hepatitis
Laser capture microdissection in comparative proteomic analysis of hepatocellular carcinoma.
Hyperinsulinism
Functional genomics of the beta-cell: short-chain 3-hydroxyacyl-coenzyme A dehydrogenase regulates insulin secretion independent of K+ currents.
Hyperinsulinism
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
Hyperinsulinism
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Hyperinsulinism
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
Hyperinsulinism
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways.
Hypoglycemia
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Infections
Hookworm larval infectivity, arrest and amphiparatenesis: the Caenorhabditis elegans Daf-c paradigm.
Intellectual Disability
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Learning Disabilities
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Mental Retardation, X-Linked
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Mitochondrial Diseases
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Mitochondrial Diseases
Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses.
Mitochondrial Diseases
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Multiple Sclerosis
Enhanced levels of mitochondrial enzyme 17beta-hydroxysteroid dehydrogenase type 10 in patients with Alzheimer disease and multiple sclerosis.
Neoplasms
17?-Hydroxysteroid dehydrogenase type 10 predicts survival of patients with colorectal cancer and affects mitochondrial DNA content.
Neoplasms
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Neurodegenerative Diseases
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
Neurodegenerative Diseases
Myxococcus CsgA, Drosophila Sniffer, and human HSD10 are cardiolipin phospholipases.
Neurodegenerative Diseases
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Parkinson Disease
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Parkinson Disease
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Pheochromocytoma
Overexpression of 17?-hydroxysteroid dehydrogenase type 10 increases pheochromocytoma cell growth and resistance to cell death.
Prostatic Hyperplasia
Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism.
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KM VALUE [mM]
SUBSTRATE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
IMAGE
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SPECIFIC ACTIVITY [µmol/min/mg]
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
additional information
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remaining enzyme activity in genetic deficient fibroblast is 0.02 nmol per min and mg protein
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pH OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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TEMPERATURE OPTIMUM
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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ORGANISM
COMMENTARY
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase
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brenda
bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase
Uniprot
brenda
bifunctional 17beta-hydroxysteroid dehydrogenase type 10/2-methyl-3-hydroxybutyryl-CoA dehydrogenase
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brenda
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SOURCE TISSUE
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
SOURCE
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levels of SCHAD/HADII are significantly reduced in the ventral midbrain of a ParkinsonĀs disease mouse model
brenda
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LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY
GeneOntology No.
LITERATURE
SOURCE
Highest Expressing Human Cell Lines
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GENERAL INFORMATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
physiological function
physiological function
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enzyme knock-down by antisense-oligonucleotides results in a 40% reduction in pyruvate turnover compared to the uninjected or control injected tissue. The morphology of mitochondria in animal cap explants is changed after HSD10 knock-down. Mitochondria show severe reduction of cristae and a generally irregular shape
physiological function
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generation of conditional Hsd17b10 knock-out mouse lines by elimination of Hsd17b10 in endothelial cells and cells of the immune system. These mice are viable and fertile, but have defects in spleen and vasculature. The animals die rapidly around week 25. Conditional knock-out lines with elimination of the Hsd17b10 gene in noradrenergic neurons are viable and fertile but die around week 26. In the loci coerulei of HSD10 deficient mice in noradrenergic neurons, almost 30% of the mitochondria show depletion of cristae and appeared empty, more than 50% of the mitochondria are loosely packed and have swollen cristae, while normal morphology is only found in 20%
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PDB
SCOP
CATH
UNIPROT
ORGANISM
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MOLECULAR WEIGHT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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SUBUNIT
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
D86G
28% residual activity. Mutation causes severe disruption of mitochondrial morphology
L122V
N274S
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nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency
R130C
additional information
L122V
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nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency
R130C
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nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency
R130C
64% residual activity, mutant is unstable at room temperature and steadily loses enzyme activity. Mutation causes severe disruption of mitochondrial morphology
additional information
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10 X-linked MHBD deficiency patient phenotypes, overview
additional information
mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation
additional information
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mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation
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PURIFICATION (Commentary)
ORGANISM
UNIPROT
LITERATURE
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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
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APPLICATION
ORGANISM
UNIPROT
COMMENTARY
LITERATURE
medicine
medicine
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used for coupled enzyme assay to detect 3-oxothiolase deficiency in L-isoleucine degrading pathway
medicine
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important in brain development and aging, SCHAD deficiency is an inherited defect in mitochondrial fatty acid oxidation, reported cases of SCHAD deficiency are actually due to a deficiency of HAD, abnormal levels may contribute to the pathogenesis of some neural disorders, potential target for intervention in Alzheimer's disease, Parkinson's disease, and an X-linked mental retardation
medicine
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MHBD deficiency is a X-linked inborn error in the metabolism of isoleucine. Impairment of energy metabolism seems to play a role in the pathogenesis of MHBD deficiency. Males are more severely affected than females by MHBD deficiency. Male patients with MHBD deficiency before 10 months of age show neurodegeneration, while female carriers show a variety of symptoms (borderline learning difficulties to psychomotor and speech delay)
medicine
mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation. There is no correlation between enzyme activity and clinical presentation. HSD10 is essential for structural and functional integrity of mitochondria independently of its enzymatic activity. Impairment of this function in neural cells causes apoptotic cell death whilst the enzymatic activity of HSD10 is not required for cell survival
medicine
mutant loses most or all catalytic functions, and the males with this mutation have a severe clinical phenotype. The mutation eliminates several hydrogen bonds and reduces the van der Waals interaction between HSD10 subunits. The resulting disruption of protein structure impairs some if not all of the catalytic and non-enzymatic functions of HSD10. Eight patients with the R130C mutation show an average 2-methyl-3-hydroxybutyryl-CoA dehydrogenase activity of only 6% of the normal control level
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
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Homo sapiens, Mus musculus, Rattus norvegicus
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Homo sapiens
brenda
Rauschenberger, K.; Schoeler, K.; Sass, J.O.; Sauer, S.; Djuric, Z.; Rumig, C.; Wolf, N.I.; Okun, J.G.; Koelker, S.; Schwarz, H.; Fischer, C.; Grziwa, B.; Runz, H.; Nuemann, A.; Shafqat, N.; Kavanagh, K.L.; Haemmerling, G.; Wanders, R.J.; Shield, J.P.; Wendel, U.; Stern, D.; Nawroth, P.; Hoffmann, G.F.; Bartram, C.R.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival
EMBO Mol. Med.
2
51-62
2010
Homo sapiens (Q99714), Homo sapiens, Mus musculus, Xenopus laevis
brenda
Yang, S.Y.; Dobkin, C.; He, X.Y.; Philipp, M.; Brown, W.T.
A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation
Gene
515
380-384
2013
Homo sapiens (Q99714), Homo sapiens
brenda
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