Mevalonate kinase
Function
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419).
Involvement in disease
Mevalonic aciduria
MEVA
Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperimmunoglobulinemia D and periodic fever syndrome
HIDS
Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Porokeratosis 3, multiple types
POROK3
A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.
Sequence Similarities
Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
Cellular localization
- Cytoplasm
- Peroxisome
Alternative names
Mevalonate kinase, MK, MVK