HMGCL (NM_001166059) - 3-hydroxy-3-methylglutaryl-CoA lyase
Hydroxymethylglutaryl-Coa Lyase, Mitochondrial Isoform 2 Precursor
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Protein 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].
- Strand
- -
- Chromosome
- 1
- Protein
- 254 residues
- All mutations
- 50
- PTM sites
- 5
- CDS
- 24,128,952 - 24,151,905
- Transcription
- 24,128,366 - 24,151,949
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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