MVK Polyclonal Antibody

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.,