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-Hydroxyisobutyryl-Coa Hydrolase Deficiency and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are beta-Alanine metabolism (KEGG) and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include 3-hydroxyisobutyryl-CoA hydrolase activity. An important paralog of this gene is ECHS1.
UniProtKB/Swiss-Prot Summary 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.