Search results for abx030051

Hydroxymethylglutaryl-CoA Lyase, Mitochondrial (HMGCL) Antibody, Abbexa, abx030051

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].