HMGCL( Human )

Entrez Gene 3155 Entrez Gene 3155
3-hydroxymethyl-3-methylglutaryl-CoA lyase

Alias

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, Oct 2009].

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