MVK 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 MVK results in mevalonic aciduria.
Function:
May be a regulatory site in cholesterol biosynthetic pathway.
Subunit:
Homodimer.
Subcellular Location:
Cytoplasm.
DISEASE:
Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.
Similarity:
Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
SWISS:
Q03426
Gene ID:
4598
Database links:
Entrez Gene: 4598 Human
Omim: 251170 Human
SwissProt: Q03426 Human
Unigene: 130607 Human
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