1.1.1.135: GDP-6-deoxy-D-talose 4-dehydrogenase
This is an abbreviated version!
For detailed information about GDP-6-deoxy-D-talose 4-dehydrogenase, go to the full flat file.
Word Map on EC 1.1.1.135
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1.1.1.135
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2-methyl-3-hydroxybutyryl-coa
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isoleucine
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hydroxyacyl-coa
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x-linked
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inborn
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amyloid-beta
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reverses
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superovulated
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amp-activated
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x-chromosomal
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synthesis
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medicine
- 1.1.1.135
- 2-methyl-3-hydroxybutyryl-coa
- isoleucine
-
hydroxyacyl-coa
-
x-linked
-
inborn
- amyloid-beta
-
reverses
-
superovulated
-
amp-activated
-
x-chromosomal
- synthesis
- medicine
Reaction
Synonyms
GDP-4-keto-rhamnose reductase, GDP-6-deoxy-D-talose dehydrogenase, guanosine diphospho-6-deoxy-D-talose dehydrogenase, HADH2
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Disease
Disease on EC 1.1.1.135 - GDP-6-deoxy-D-talose 4-dehydrogenase
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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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