Description

  • Product name

    Recombinant Human PMM2 protein
  • Purity

    > 95 % SDS-PAGE.
    ab99391 is purified using conventional chromatography techniques.
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MGSSHHHHHHSSGLVPRGSHMAAPGPALCLFDVDGTLTAPRQKITKEMDD FLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGK LLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVS PIGRSCSQEERIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISF DVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDHEIFTDPRTMGYS VTAPEDTRRICELLFS
    • Predicted molecular weight

      30 kDa including tags
    • Amino acids

      1 to 246
    • Tags

      His tag N-Terminus

Specifications

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.

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • Mass spectrometry

    MALDI-TOF
  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    pH: 8.00
    Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol, 0.58% Sodium chloride

General Info

  • Alternative names

    • AI585868
    • BOS_22465
    • C86848
    • CDG 1
    • CDG1
    • CDG1a
    • CDGS
    • MGC127449
    • Phosphomannomutase 2
    • PMM 2
    • Pmm2
    • PMM2_HUMAN
    see all
  • Function

    Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
  • Pathway

    Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the eukaryotic PMM family.
  • Cellular localization

    Cytoplasm.
  • Information by UniProt

Images

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

References

ab99391 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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