Entrez gene ID | | 26275 |
Official gene symbol | | HIBCH |
Full name | | 3-hydroxyisobutyryl-CoA hydrolase |
Aliases | | ,HIBYLCOAH, |
Gene 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. |
Location | | Chromosome: 2 Locus: 2q32.2 |
Gene position | | 191184771 - 191069360 Map Viewer |
Gene orientation | | minus |
Gene size | | 115412 bp |
Gene sequence |
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OMIM ID | | 610690 |