BRENDA - Enzyme Database show
show all sequences of 1.1.1.178

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

Garcia-Villoria, J.; Ofman, R.; Sala, P.R.; Merinero, B.; Ramos, J.; Garcia-Silva, M.T.; Beseler, B.; Dalmau, J.; Wanders, R.J.; Ugarte, M.; Pediatr. Res. 58, 488-491 (2005)

Data extracted from this reference:

Engineering
Amino acid exchange
Commentary
Organism
L122V
nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency
Homo sapiens
additional information
10 X-linked MHBD deficiency patient phenotypes, overview
Homo sapiens
N274S
nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency
Homo sapiens
R130C
nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency
Homo sapiens
Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
additional information
Homo sapiens
inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
?
-
-
-
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
additional information
inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
670477
Homo sapiens
?
-
-
-
-
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
L122V
nucleotide substitution C364G, inborn mutation involved in X-linked MHBD deficiency
Homo sapiens
additional information
10 X-linked MHBD deficiency patient phenotypes, overview
Homo sapiens
N274S
nucleotide substitution A740G, inborn mutation involved in lethal X-linked MHBD deficiency
Homo sapiens
R130C
nucleotide substitution C388T, inborn mutation involved in lethal X-linked MHBD deficiency
Homo sapiens
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
additional information
Homo sapiens
inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
?
-
-
-
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
additional information
inborn X-linked deficiency in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase, MHBD, causes lethal neurodegenerative disease due to an error in isoleucine metabolism, overview
670477
Homo sapiens
?
-
-
-
-
Other publictions for EC 1.1.1.178
No.
1st author
Pub Med
title
organims
journal
volume
pages
year
Activating Compound
Application
Cloned(Commentary)
Crystallization (Commentary)
Engineering
General Stability
Inhibitors
KM Value [mM]
Localization
Metals/Ions
Molecular Weight [Da]
Natural Substrates/ Products (Substrates)
Organic Solvent Stability
Organism
Oxidation Stability
Posttranslational Modification
Purification (Commentary)
Reaction
Renatured (Commentary)
Source Tissue
Specific Activity [micromol/min/mg]
Storage Stability
Substrates and Products (Substrate)
Subunits
Temperature Optimum [C]
Temperature Range [C]
Temperature Stability [C]
Turnover Number [1/s]
pH Optimum
pH Range
pH Stability
Cofactor
Ki Value [mM]
pI Value
IC50 Value
Activating Compound (protein specific)
Application (protein specific)
Cloned(Commentary) (protein specific)
Cofactor (protein specific)
Crystallization (Commentary) (protein specific)
Engineering (protein specific)
General Stability (protein specific)
IC50 Value (protein specific)
Inhibitors (protein specific)
Ki Value [mM] (protein specific)
KM Value [mM] (protein specific)
Localization (protein specific)
Metals/Ions (protein specific)
Molecular Weight [Da] (protein specific)
Natural Substrates/ Products (Substrates) (protein specific)
Organic Solvent Stability (protein specific)
Oxidation Stability (protein specific)
Posttranslational Modification (protein specific)
Purification (Commentary) (protein specific)
Renatured (Commentary) (protein specific)
Source Tissue (protein specific)
Specific Activity [micromol/min/mg] (protein specific)
Storage Stability (protein specific)
Substrates and Products (Substrate) (protein specific)
Subunits (protein specific)
Temperature Optimum [C] (protein specific)
Temperature Range [C] (protein specific)
Temperature Stability [C] (protein specific)
Turnover Number [1/s] (protein specific)
pH Optimum (protein specific)
pH Range (protein specific)
pH Stability (protein specific)
pI Value (protein specific)
Expression
General Information
General Information (protein specific)
Expression (protein specific)
KCat/KM [mM/s]
KCat/KM [mM/s] (protein specific)
725097
Yang
A 5-methylcytosine hotspot res ...
Homo sapiens
Gene
515
380-384
2013
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711851
Rauschenberger
A non-enzymatic function of 17 ...
Homo sapiens, Mus musculus, Xenopus laevis
EMBO Mol. Med.
2
51-62
2010
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1
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2
2
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697369
Garcia-Villoria
Study of patients and carriers ...
Homo sapiens
Clin. Biochem.
42
27-33
2009
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1
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670477
Garcia-Villoria
2-Methyl-3-hydroxybutyryl-CoA ...
Homo sapiens
Pediatr. Res.
58
488-491
2005
-
-
-
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4
-
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1
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2
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1
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4
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286123
Zschocke
Progressive infantile neurodeg ...
Homo sapiens
Pediatr. Res.
48
852-855
2000
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2
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2
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286122
Luo
Short-chain 3-hydroxy-2-methyl ...
Rattus norvegicus
Arch. Biochem. Biophys.
321
214-220
1995
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286121
Gibson
A coupled assay detecting defe ...
Homo sapiens
Clin. Chim. Acta
205
127-135
1992
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1
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286120
Conrad R.S.; Massey L.K.; Sokatch J.R.
D- and L-leucine metabolism an ...
Pseudomonas putida, Pseudomonas putida PpG2
J. Bacteriol.
4
103-111
1974
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2
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1
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8
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