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Rabbit Anti-MVK  antibody (bs-20155R)  
~~~促銷代碼KT202411~~~
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產品編號 bs-20155R
英文名稱 Rabbit Anti-MVK  antibody
中文名稱 甲羥戊酸激酶抗體
別    名 LH receptor mRNA binding protein; LRBP; Mevalonate kinase; Mevalonic aciduria; MK antibody MVLK; KIME_HUMAN.  
研究領域 腫瘤  細胞生物  免疫學  轉錄調節因子  激酶和磷酸酶  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 42kDa
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MVK: 101-200/396 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 Preservative: 0.02% Proclin300, Constituents: 1% BSA, 0.01M PBS, pH7.4.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 MVK 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 MVK results in mevalonic aciduria.

Function:
May be a regulatory site in cholesterol biosynthetic pathway.

Subunit:
Homodimer.

Subcellular Location:
Cytoplasm.

DISEASE:
Defects in MVK are the cause of mevalonic aciduria (MEVA) [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.
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.

Similarity:
Belongs to the GHMP kinase family. Mevalonate kinase subfamily.

SWISS:
Q03426

Gene ID:
4598

Database links:

Entrez Gene: 4598 Human

Omim: 251170 Human

SwissProt: Q03426 Human

Unigene: 130607 Human



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