HMGCL, Hydroxymethylglutaryl-CoA lyase, mitochondrial, 3-hydroxy-3-methylglutarate-CoA lyase

HMGCL 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].