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The expected taxonomic range for this enzyme is: Bacteria, Eukaryota
Synonyms
hadh2, more
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GDP-4-keto-rhamnose reductase
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GDP-6-deoxy-D-talose dehydrogenase
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guanosine diphospho-6-deoxy-D-talose dehydrogenase
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GDP-6-deoxy-alpha-D-talose + NAD(P)+ = GDP-4-dehydro-alpha-D-rhamnose + NAD(P)H + H+
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MetaCyc
GDP-6-deoxy-D-talose biosynthesis
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GDP-6-deoxy-alpha-D-talose:NAD(P)+ 4-oxidoreductase
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GDP-4-dehydro-6-deoxy-D-talose + NAD(P)H
GDP-6-deoxy-D-talose + NAD(P)+
GDP-4-dehydro-6-deoxy-D-talose + NAD(P)H
GDP-6-deoxy-D-talose + NAD(P)+
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Substrates: -
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GDP-4-dehydro-6-deoxy-D-talose + NAD(P)H
GDP-6-deoxy-D-talose + NAD(P)+
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ir
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GDP-4-dehydro-6-deoxy-D-talose + NAD(P)H
GDP-6-deoxy-D-talose + NAD(P)+
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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
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
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Mental Retardation, X-Linked
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
Neurodegenerative Diseases
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
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expression in Escherichia coli
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gram-negative motile strain GS isolated from soil
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enzyme is identical to 3-hydroxyacyl-CoA dehydrogenase type II
Swissprot
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Uniprot
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cultured skin fibroblast
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Highest Expressing Human Cell Lines
Cell Line Links
Gene Links
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TLD_AGGAC
294
0
33342
Swiss-Prot
Secretory Pathway (Reliability: 4)
HCD2_BOVIN
261
0
27140
Swiss-Prot
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HCD2_HUMAN
261
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26923
Swiss-Prot
Secretory Pathway (Reliability: 2)
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28000
x * 28000, SDS-PAGE
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L122C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
R130C
missence mutation found in patient with inborn error of isoleucine degradation, almost complete loss of enzyme activity
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medicine
L122C and R130C are missence mutations found in patients with inborn error of isoleucine degradation, almost complete loss of enzyme activity
synthesis
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use of enzyme for synthesis of GDP-deoxyhexoses
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Markovitz, A.
Biosynthesis of guanosine diphosphate D-rhamnose and guanosine diphosphate D-talomethylose from guanosine diphosphate alpha-D-mannose
J. Biol. Chem.
239
2091-2098
1964
Bacteria
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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.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
Am. J. Hum. Genet.
72
1300-1307
2003
Bos taurus (O02691), Bos taurus, Homo sapiens (Q99714), Homo sapiens
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Maki, M.; Jarvinen, N.; Rabina, J.; Maaheimo, H.; Mattila, P.; Renkonen, R.
Cloning and functional expression of a novel GDP-6-deoxy-D-talose synthetase from Actinobacillus actinomycetemcomitans
Glycobiology
13
295-303
2003
Aggregatibacter actinomycetemcomitans
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