Anti-MVK Antibody (CAB5354)
- SKU:
- CAB5354
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Frequently bought together:
Description
抗体名: | Anti-MVK Antibody |
抗体コード: | CAB5354 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 40-300 of human MVK (NP_000422.1). |
申し込み: | WB |
推奨希釈: | WB 1:500 - 1:2000 |
反応性: | Human |
ポジティブサンプル: | Raji, BT-474 |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 40-300 of human MVK (NP_000422.1). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | RLQP HSNG KVDL SLPN IGIK RAWD VARL QSLD TSFL EQGD VTTP TSEQ VEKL KEVA GLPD DCAV TERL AVLA FLYL YLSI CRKQ RALP SLDI VVWS ELPP GAGL GSSA AYSV CLAA ALLT VCEE IPNP LKDG DCVN RWTK EDLE LINK WAFQ GERM IHGN PSGV DNAV STWG GALR YHQG KISS LKRS PALQ ILLT NTKV PRNT RALV AGVR NRLL KFPE IVAP LLTS IDAI SLEC ERVL GEMG EAPA PEQY LVLE ELID M |
遺伝子ID: | 4598 |
Uniprot: | Q03426 |
セルラーロケーション: | Cytoplasm |
計算された分子量: | 42kDa |
観察された分子量: | 42kDa |
同義語: | MVK, LRBP, MK, MVLK, POROK3 |
バックグラウンド: | 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. |
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 |
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