Mevalonate Kinase (MVK) Antibody – Rabbit

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. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MVK: May be a regulatory site in cholesterol biosynthetic pathway. Defects in MVK are the cause of mevalonic aciduria (MEVA). 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). 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. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.

Protein type: EC 2.7.1.36; Kinase, other; Translation; RNA-binding; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis

Chromosomal Location of Human Ortholog: 12q24

Cellular Component: peroxisome; cytosol

Molecular Function: identical protein binding; mevalonate kinase activity; ATP binding

Biological Process: isoprenoid biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; negative regulation of inflammatory response; phosphorylation; cholesterol biosynthetic process

Disease: Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-igd Syndrome; Mevalonic Aciduria