Recombinant Human Collagen VI alpha 2 protein (ab169887)

Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MASMTGGQQMGRGHHHHHHGNLYFQGGETELSVAQCTQRPVDIVFLLDGS ERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVA FPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGRARRHAE LSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLG DRAAVFHEKDYDSLAQPGFFDRFIRWIC
    • Molecular weight
      25 kDa including tags
    • Amino acids
      820 to 1019
    • Tags
      His-T7 tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab169887 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

  • Purity
    >90% by SDS-PAGE.
    The final product was refolded using a unique “temperature shift inclusion body refolding” technology and chromatographically purified.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    pH: 8.00
    Constituent: 0.32% Tris HCl
    Note: Contains NaCl, KCl, EDTA, arginine, DTT and Glycerol.

General Info

  • Alternative names
    • CO6A2_HUMAN
    • COL6A2
    • Collagen alpha 2(VI) chain
    • Collagen alpha-2(VI) chain
    • collagen type VI alpha 2
    • Collagen VI alpha 2 polypeptide
    • human mRNA for collagen VI alpha 2 C terminal globular domain
    • PP3610
    see all
  • Function
    Collagen VI acts as a cell-binding protein.
  • Involvement in disease
    Defects in COL6A2 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.
    Defects in COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.
    Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR) [MIM:255600]; also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.
  • Sequence similarities
    Belongs to the type VI collagen family.
    Contains 3 VWFA domains.
  • Post-translational
    modifications
    Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Cellular localization
    Secreted > extracellular space > extracellular matrix. Membrane. Recruited on membranes by CSPG4.
  • Information by UniProt

References

ab169887 has not yet been referenced specifically in any publications.

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