Recombinant人PMM2 protein (ab99391)

概述

  • 产品名称Recombinant人PMM2 protein
  • 蛋白长度Full length protein

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • AccessionO15305
    • 种属Human
    • 序列MGSSHHHHHHSSGLVPRGSHMAAPGPALCLFDVDGTLTAPRQKITKEMDD FLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVS PIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYS VTAPEDTRRICELLFS
    • 分子量30 kDa including tags
    • 氨基酸1 to 246
    • 标签His tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab99391 in the following tested applications.

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

  • 应用

    SDS-PAGE

    Mass Spectrometry

  • 质谱法
    MALDI-TOF
  • 纯度> 95 % SDS-PAGE.
    ab99391 is purified using conventional chromatography techniques.
  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    Preservative: None
    Constituents: 10% Glycerol, 0.1M Sodium chloride, 20mM Tris HCl, 1mM DTT, pH 8.0

常规信息

  • 别名
    • AI585868
    • BOS_22465
    • C86848
    • CDG 1
    • CDG1
    • CDG1a
    • CDGS
    • MGC127449
    • Phosphomannomutase 2
    • PMM 2
    • Pmm2
    • PMM2_HUMAN
    see all
  • 功能Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
  • 通路Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.
  • 疾病相关Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.
  • 序列相似性Belongs to the eukaryotic PMM family.
  • 细胞定位Cytoplasm.
  • Information by UniProt

Recombinant Human PMM2 protein 图像

  • 15% SDS-PAGE analysis of 3µg ab99391.

Recombinant Human PMM2 protein (ab99391)参考文献

ab99391 has not yet been referenced specifically in any publications.

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