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EC Tree
The taxonomic range for the selected organisms is: Homo sapiens
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota
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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)+ 4-oxidoreductase
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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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Uniprot
brenda
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cultured skin fibroblast
brenda
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HCD2_HUMAN
261
0
26923
Swiss-Prot
other Location (Reliability: 1)
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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
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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
brenda
1.1.1.135 GDP-6-deoxy-D-talose 4-dehydrogenase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
