BRENDA - Enzyme Database show
show all sequences of 1.1.1.178

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

Zschocke, J.; Ruiter, J.P.N.; Brand, J.; Lindner, M.; Hoffmann, G.F.; Wanders, R.J.A.; Mayatepek, E.; Pediatr. Res. 48, 852-855 (2000)

Data extracted from this reference:

Natural Substrates/ Products (Substrates)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
2-methyl-3-hydroxybutyryl-CoA + NAD+
Homo sapiens
isoleucine metabolism
2-methylacetoacetyl-CoA + NADH
-
Homo sapiens
?
additional information
Homo sapiens
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
?
-
-
-
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Homo sapiens
-
-
-
Source Tissue
Source Tissue
Commentary
Organism
Textmining
fibroblast
-
Homo sapiens
-
Specific Activity [micromol/min/mg]
Specific Activity Minimum [µmol/min/mg]
Specific Activity Maximum [µmol/min/mg]
Commentary
Organism
additional information
-
remaining enzyme activity in genetic deficient fibroblast is 0.02 nmol per min and mg protein
Homo sapiens
Substrates and Products (Substrate)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
2-methyl-3-hydroxybutyryl-CoA + NAD+
isoleucine metabolism
286123
Homo sapiens
2-methylacetoacetyl-CoA + NADH
-
286123
Homo sapiens
?
additional information
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
286123
Homo sapiens
?
-
-
-
-
Natural Substrates/ Products (Substrates) (protein specific)
Natural Substrates
Organism
Commentary (Nat. Sub.)
Natural Products
Commentary (Nat. Pro.)
Organism (Nat. Pro.)
Reversibility
2-methyl-3-hydroxybutyryl-CoA + NAD+
Homo sapiens
isoleucine metabolism
2-methylacetoacetyl-CoA + NADH
-
Homo sapiens
?
additional information
Homo sapiens
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
?
-
-
-
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
fibroblast
-
Homo sapiens
-
Specific Activity [micromol/min/mg] (protein specific)
Specific Activity Minimum [µmol/min/mg]
Specific Activity Maximum [µmol/min/mg]
Commentary
Organism
additional information
-
remaining enzyme activity in genetic deficient fibroblast is 0.02 nmol per min and mg protein
Homo sapiens
Substrates and Products (Substrate) (protein specific)
Substrates
Commentary Substrates
Literature (Substrates)
Organism
Products
Commentary (Products)
Literature (Products)
Organism (Products)
Reversibility
2-methyl-3-hydroxybutyryl-CoA + NAD+
isoleucine metabolism
286123
Homo sapiens
2-methylacetoacetyl-CoA + NADH
-
286123
Homo sapiens
?
additional information
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
286123
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)
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Yang
A 5-methylcytosine hotspot res ...
Homo sapiens
Gene
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380-384
2013
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1
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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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4
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3
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6
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3
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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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1
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2
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670477
Garcia-Villoria
2-Methyl-3-hydroxybutyryl-CoA ...
Homo sapiens
Pediatr. Res.
58
488-491
2005
-
-
-
-
4
-
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-
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1
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2
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1
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4
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1
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1
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286123
Zschocke
Progressive infantile neurodeg ...
Homo sapiens
Pediatr. Res.
48
852-855
2000
-
-
-
-
-
-
-
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-
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2
-
2
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1
1
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2
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2
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1
1
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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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-
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1
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1
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3
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1
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2
1
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1
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1
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1
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1
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2
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2
1
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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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1
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2
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1
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1
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1
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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
2
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3
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1
1
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8
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1
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1
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8
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