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]
Forensic Context
A longitudinal mRNA expression analysis in post-mortem human blood samples demonstrated that the HIBCH was identified as a protein-coding gene with a negative coefficient in a post-mortem interval (PMI) prediction model, where it was included in a down-regulated expression cluster [Antiga et al. DOI:10.1038/s41598-021-96095-z].