HIBCH, Official Symbol HIBCHprovided by HGNC Official Full Name 3-hydroxyisobutyryl-CoA hydrolaseprovided by HGNC Primary source HGNC:HGNC:4908 See related Ensembl:ENSG00000198130 MIM:610690; AllianceGenome:HGNC:4908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HIBYLCOAH 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] Expression Broad expression in kidney (RPKM 69.9), adrenal (RPKM 32.9) and 23 other tissues See more Orthologs mouse all