Description
Product Characteristics:
Hydroxymethylglutaryl-CoA lyase (HMGCL) is found in fibroblasts, liver and lymphoblasts. It has a role in ketogenesis and leucine catabolism. Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (hydroxymethylglutaricaciduria), an autosomal recessive disease which can lead to hypoglycemia and coma.
Subcellular location: Cytoplasm
Synonyms: 3 hydroxy 3 methylglutaryl CoA lyase, 3 hydroxy 3 methylglutaryl Coenzyme A lyase, 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase hydroxymethylglutaricaciduria, 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase, 3-hydroxy-3-methylglutarate-CoA lyase, HL, HMG CoA lyase, HMG CoA Lyase Deficiency, HMG-CoA lyase, HMGCL, HMGCL_HUMAN, Hydroxymethylglutaricaciduria, Hydroxymethylglutaryl CoA lyase, Hydroxymethylglutaryl CoA lyase mitochondrial, Hydroxymethylglutaryl-CoA lyase, mitochondrial, MS725, OTTHUMP00000044830.
Target Information: 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]