HMGCL, Official Symbol HMGCLprovided by HGNC Official Full Name 3-hydroxy-3-methylglutaryl-CoA lyaseprovided by HGNC Primary source HGNC:HGNC:5005 See related Ensembl:ENSG00000117305 MIM:613898; AllianceGenome:HGNC:5005 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 HL; HMGCL1 Summary The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in liver (RPKM 67.1), kidney (RPKM 50.9) and 24 other tissues See more Orthologs mouse all