Aliases for HIBCH Gene
External Ids for HIBCH Gene
Previous GeneCards Identifiers for HIBCH Gene
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]
GeneCards Summary for HIBCH Gene
HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase) is a Protein Coding gene. Diseases associated with HIBCH include 3-Hydroxyisobutryl-Coa Hydrolase Deficiency and Spinocerebellar Ataxia 5. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity.
UniProtKB/Swiss-Prot for HIBCH Gene
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.