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Rabbit Anti-MVK/BF594 Conjugated antibody (bs-20155R-BF594)
訂購熱線:400-901-9800
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-20155R-BF594
英文名稱1 Rabbit Anti-MVK/BF594 Conjugated antibody
中文名稱 BF594標記的甲羥戊酸激酶抗體
別    名 LH receptor mRNA binding protein; LRBP; Mevalonate kinase; Mevalonic aciduria; MK antibody MVLK; KIME_HUMAN.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
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
產品應用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 42kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MVK
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產品介紹 background:
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.

Database links:

Entrez Gene: 4598 Human

Omim: 251170 Human

SwissProt: Q03426 Human

Unigene: 130607 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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