製品の概要

  • 製品名Recombinant Human PMM2 protein
  • タンパク質長Full length protein

製品の詳細

  • 由来Recombinant
  • 由来Escherichia coli
  • アミノ酸配列
    • アクセッション番号O15305
    • 生物種Human
    • 配列MGSSHHHHHHSSGLVPRGSHMAAPGPALCLFDVDGTLTAPRQKITKEMDD FLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVS PIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYS VTAPEDTRRICELLFS
    • 分子量30 kDa including tags
    • 領域1 to 246
    • タグHis tag N-Terminus

特性

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.

  • アプリケーション

    SDS-PAGE

    Mass Spectrometry

  • 質量分析
    MALDI-TOF
  • 精製度> 95 % SDS-PAGE.
    ab99391 is purified using conventional chromatography techniques.
  • 製品の状態Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • AI585868
    • BOS_22465
    • C86848
    • CDG 1
    • CDG1
    • CDG1a
    • CDGS
    • MGC127449
    • Phosphomannomutase 2
    • PMM 2
    • Pmm2
    • PMM2_HUMAN
    see all
  • 機能Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
  • パスウェイNucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.
  • 関連疾患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.
  • 配列類似性Belongs to the eukaryotic PMM family.
  • 細胞内局在Cytoplasm.
  • Information by UniProt

Recombinant Human PMM2 protein 画像

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

Recombinant Human PMM2 protein (ab99391) 使用論文

ab99391 has not yet been referenced specifically in any publications.

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