HMGCL Products

Description

The protein encoded by the HMGCL gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes thefinal step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associatedwith HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq)

Bioinformatics

Entrez	3155 Human
Uniprot	AAH10570 Human NM_000191 Human NP_000182.2 Human P35914 Human
Product By Gene ID	3155
Alternate Names	3-hydroxy-3-methylglutaryl-CoA lyase 3-hydroxymethyl-3-methylglutaryl-CoA lyase EC 4.1.3.4 HLmitochondrial