| ncRNA Symbol: | HMGCL |
| Full Name: | 3-hydroxy-3-methylglutaryl-CoA lyase |
| Category: | mRNA |
| Synonyms: | HL |
| Chromosome: | chr1 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 23801885 | End Site(bp): | 23838620 | |
| 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, Oct 2009] |
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