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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-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-CoA lyase; 3-hydroxy-3-methylglutaryl-Coenzyme A lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; AW476067; HL; Hmgcl; HMG-CoA lyase; hydroxymethylglutaricaciduria; hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase
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