Gene Symbol | HIBCH |
Entrez Gene ID | 26275 |
Full Name | 3-hydroxyisobutyryl-CoA hydrolase |
Synonyms | HIBYLCOAH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. |
Disorder MIM: | |
Disorder Html: | 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) |