Aliases for HMGCL Gene
External Ids for HMGCL Gene
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]
GeneCards Summary for HMGCL Gene
HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase) is a Protein Coding gene. Diseases associated with HMGCL include hmg-coa lyase deficiency and 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is HMGCLL1.
UniProtKB/Swiss-Prot for HMGCL Gene
Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.