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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)
