Recombinant人MVK protein (ab116772)

概述

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ03426
    • 种属Human
    • 序列LIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKP GLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
    • 分子量37 kDa including tags
    • 氨基酸297 to 396

技术指标

Our Abpromise guarantee covers the use of ab116772 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • FLJ96772
    • KIME_HUMAN
    • LH receptor mRNA binding protein
    • LRBP
    • Mevalonate kinase
    • Mevalonate kinase 1
    • Mevalonic aciduria
    • MK
    • mvk
    • MVLK
    • POROK3
    see all
  • 功能May be a regulatory site in cholesterol biosynthetic pathway.
  • 通路Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.
  • 疾病相关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.
  • 序列相似性Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
  • 细胞定位Cytoplasm. Peroxisome.
  • Information by UniProt

Recombinant Human MVK protein 图像

  • 12.5% SDS-PAGE showing ab116772 at approximately 36.63kDa stained with Coomassie Blue.

Recombinant Human MVK protein (ab116772)参考文献

ab116772 has not yet been referenced specifically in any publications.

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