Entrez gene ID | | 3155 |
Official gene symbol | | HMGCL |
Full name | | 3-hydroxymethyl-3-methylglutaryl-CoA lyase |
Aliases | | ,HL, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p36.1-p35 |
Gene position | | 24151949 - 24128367 Map Viewer |
Gene orientation | | minus |
Gene size | | 23583 bp |
Gene sequence |
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OMIM ID | | 246450 |