BRENDA - Enzyme Database show
show all sequences of 1.1.1.135

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene

Ofman, R.; Ruiter, J.P.; Feenstra, M.; Duran, M.; Poll-The, B.T.; Zschocke, J.; Ensenauer, R.; Lehnert, W.; Sass, J.O.; Sperl, W.; Wanders, R.J.; Am. J. Hum. Genet. 72, 1300-1307 (2003)

Data extracted from this reference:

Application
Application
Commentary
Organism
medicine
L122C and R130C are missence mutations found in patients with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
Engineering
Amino acid exchange
Commentary
Organism
L122C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
R130C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
Molecular Weight [Da]
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
28000
-
x * 28000, SDS-PAGE
Homo sapiens
Organism
Organism
Primary Accession No. (UniProt)
Commentary
Textmining
Bos taurus
O02691
enzyme is identical to 3-hydroxyacyl-CoA dehydrogenase type II
-
Homo sapiens
Q99714
enzyme is identical to 3-hydroxyacyl-CoA dehydrogenase type II
-
Purification (Commentary)
Commentary
Organism
-
Bos taurus
Source Tissue
Source Tissue
Commentary
Organism
Textmining
fibroblast
cultured skin fibroblast
Homo sapiens
-
liver
-
Bos taurus
-
Subunits
Subunits
Commentary
Organism
?
x * 28000, SDS-PAGE
Homo sapiens
Application (protein specific)
Application
Commentary
Organism
medicine
L122C and R130C are missence mutations found in patients with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
Engineering (protein specific)
Amino acid exchange
Commentary
Organism
L122C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
R130C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
Homo sapiens
Molecular Weight [Da] (protein specific)
Molecular Weight [Da]
Molecular Weight Maximum [Da]
Commentary
Organism
28000
-
x * 28000, SDS-PAGE
Homo sapiens
Purification (Commentary) (protein specific)
Commentary
Organism
-
Bos taurus
Source Tissue (protein specific)
Source Tissue
Commentary
Organism
Textmining
fibroblast
cultured skin fibroblast
Homo sapiens
-
liver
-
Bos taurus
-
Subunits (protein specific)
Subunits
Commentary
Organism
?
x * 28000, SDS-PAGE
Homo sapiens
Other publictions for EC 1.1.1.135
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)
654167
Ofman
2-Methyl-3-hydroxybutyryl-CoA ...
Bos taurus, Homo sapiens
Am. J. Hum. Genet.
72
1300-1307
2003
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655688
Maki
Cloning and functional express ...
Aggregatibacter actinomycetemcomitans
Glycobiology
13
295-303
2003
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1
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285847
Markovitz
Biosynthesis of guanosine diph ...
Bacteria
J. Biol. Chem.
239
2091-2098
1964
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