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HMGCL (NM_001166059) - 3-hydroxy-3-methylglutaryl-CoA lyase

Hydroxymethylglutaryl-Coa Lyase, Mitochondrial Isoform 2 Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of HMGCL protein. View all 2 isoforms
HMGCL: hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 2 precursor
Description:

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
10.24% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 3155
UniProt
Ensembl