Gene Symbol | HMGCL |
Entrez Gene ID | 3155 |
Full Name | 3-hydroxymethyl-3-methylglutaryl-CoA lyase |
Synonyms | HL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | HMG-CoA lyase deficiency, 246450 (3) |