Protein Summary
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342). This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
- ENST00000228510
- ENSP00000228510
- ENSG00000110921
- ENST00000539575
- ENSP00000443551
- MK
- LRBP
- MVLK
- POROK3
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
protein domain | 0.92 | ||
histone modification site profile | 0.91 | ||
molecular function | 0.91 | ||
co-expressed gene | 0.89 | ||
phenotype | 0.79 | ||
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: 430.88 (req: < 5)
Gene RIFs: 57 (req: <= 3)
Antibodies: 360 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 430.88 (req: >= 5)
Gene RIFs: 57 (req: > 3)
Antibodies: 360 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 9
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 9
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0