MVK Rabbit Polyclonal Antibody

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], catalytic activity:ATP + (R) -mevalonate = ADP + (R) -5-phosphomevalonate., disease: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., disease:Defects in MVK are the cause of mevalonic aciduria [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., enzyme regulation:Farnesyl- and geranyl-pyrophosphates are competitive inhibitors., function:May be a regulatory site in cholesterol biosynthetic pathway., online information:Repertory of FMF and hereditary autoinflammatory disorders mutations, pathway:Isoprenoid biosynthesis; isopentenyl-PP biosynthesis via mevalonic acid pathway; isopentenyl-PP from (R) -mevalonic acid: step 1/3., similarity:Belongs to the GHMP kinase family., similarity:Belongs to the GHMP kinase family. Mevalonate kinase subfamily., subunit:Homodimer.