| Gene Symbol | HIBCH |
| Entrez Gene ID | 26275 |
| Full Name | 3-hydroxyisobutyryl-CoA hydrolase |
| Synonyms | HIBYLCOAH |
| General protein information |
|
| 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) |
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