Total MVK Cell-Based Colorimetric ELISA Kit
- 货号：KA3677C
- 应用：ELISA
- 种属：Human
- 其他名称：
- Mevalonate kinase (MK) (EC 2.7.1.36)
- 背景：
- 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.,
- 功能：
- steroid biosynthetic process, cholesterol biosynthetic process, isoprenoid metabolic process, phosphorus metabolic process, phosphate metabolic process, steroid metabolic process, cholesterol metabolic process, isoprenoid biosynthetic process, lipid biosynthetic process, sterol metabolic process, sterol biosynthetic process, phosphorylation,
- 细胞定位：
- Cytoplasm . Peroxisome .
