HMGCL

Gene Information
  • Official Symbol: HMGCL
  • Official Name: 3-hydroxy-3-methylglutaryl-CoA lyase
  • Aliases and Previous Symbols: N/A
  • Entrez ID: 3155
  • UniProt: P35914
  • Interactions: BioGRID
  • PubMed articles: Open PubMed
  • OMIM: Open OMIM
Function Summary
  • Entrez 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].
  • UniProt Summary: Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. {ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860, ECO:0000269|PubMed:8566388}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 11335
  • Expression level (log2 read counts): 3.46

Expression Distribution

  • Last modified: 2026/01/07 22:36
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