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.
Pathway
Butanoate metabolism; Fatty acid, triacylglycerol, and ketone body metabolism; Leucine degradation, leucine => Leucine degradation, leucine =>
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