Gene Symbol | HIBADH |
Entrez Gene ID | 11112 |
Full Name | 3-hydroxyisobutyrate dehydrogenase |
Synonyms | NS5ATP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]. |
Disorder MIM: |