HMGCL
Hydroxymethylglutaryl-CoA lyase, mitochondrial
Protein 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. 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]
- ENST00000374490
- ENSP00000363614
- ENSG00000117305
- ENST00000436439
- ENSP00000389281
- HL
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 0.99 | ||
histone modification site profile | 0.92 | ||
molecular function | 0.86 | ||
kinase perturbation | 0.76 | ||
cellular component | 0.74 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 49.2 (req: < 5)
Gene RIFs: 23 (req: <= 3)
Antibodies: 312 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 49.2 (req: >= 5)
Gene RIFs: 23 (req: > 3)
Antibodies: 312 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 19
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0