Tbio HMGCS2 Hydroxymethylglutaryl-CoA synthase, mitochondrial

Protein Summary

Description

This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• P54868
• B7Z8R3
• D3Y5K6
• Q5SZU2
• Q6IBF4
• HMG-CoA synthase

Gene Name

• HMGCS2

Ensembl ID

• ENST00000369406
• ENSP00000358414
• ENSG00000134240
• ENST00000544913
• ENSP00000439495

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.87
protein domain	0.85
kinase perturbation	0.71
disease	0.69
gene perturbation	0.67

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

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: 113.83   (req: < 5)

Gene RIFs: 31   (req: <= 3)

Antibodies: 180   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 113.83   (req: >= 5)

Gene RIFs: 31   (req: > 3)

Antibodies: 180   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0