Description
| 抗体名: | MVK Antibody |
| 抗体コード: | PACO01121 |
| サイズ: | 50ug |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB, IHC, IF |
| 推奨される希釈: | WB:1:500-1:2000, IHC:1:100-1:300, IF:1:200-1:1000 |
| 反応性: | Human, Monkey |
| 免疫原: | synthesized peptide derived from the Internal region of human MVK. |
| 憲法: | Liquid |
| ストレージバッファ: | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| 精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
| シノニム: | MVK; Mevalonate kinase; MK |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Translation; EC 2.7.1.36; RNA-binding; Kinase, other Chromosomal Location of Human Ortholog: 12q24 Cellular Component: cytosol; peroxisome Molecular Function:ATP binding; identical protein binding; mevalonate kinase activity; protein binding Biological Process: cholesterol biosynthetic process; isopentenyl diphosphate biosynthetic process, mevalonate pathway; isoprenoid biosynthetic process; negative regulation of inflammatory response; phosphorylation Disease: Hyper-igd Syndrome; Mevalonic Aciduria; Porokeratosis 3, Disseminated Superficial Actinic Type |
| NCBI Summary: | 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] |
| UniProt Code: | Q03426 |
| NCBI GenInfo Identifier: | 417215 |
| NCBI Gene ID: | 4598 |
| NCBI Accession: | Q03426.1 |
| UniProt Related Accession: | Q03426 |
| Molecular Weight: | 42,451 Da |
| NCBI Full Name: | Mevalonate kinase |
| NCBI Synonym Full Names: | mevalonate kinase |
| NCBI Official Symbol: | MVK |
| NCBI Official Synonym Symbols: | MK; LRBP; MVLK; POROK3 |
| NCBI Protein Information: | mevalonate kinase |
| UniProt Protein Name: | Mevalonate kinase |
| Protein Family: | Mevalonate kinase |
| UniProt Gene Name: | MVK |
| UniProt Entry Name: | KIME_HUMAN |
