HMGCL Polyclonal Antibody

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.

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; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl CoA lyase; Hydroxymethylglutaryl CoA lyase mitochondrial; Hydroxymethylglutaryl-CoA lyase; Mitochondrial 3 hydroxy 3 methylglutaryl CoA lyase; mitochondrial; MS725; OTTHUMP00000044830