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HMGCL

Official Full Name
3-hydroxy-3-methylglutaryl-CoA lyase
Organism
Homo sapiens
GeneID
3155
Background
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]
Synonyms
HL; HMGCL1;

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