Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MTYVRETCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNR LGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDEHIDSLSSFKEAVKNL EWIAGGTWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNL RALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVA EKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDGSERL GEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPL SHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSF VFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRA AVFHEKDYDSLAQPGFFDRFIRWIC
    • Amino acids
      1 to 425
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158162 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

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

Images

  • ab158162 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158162 has not yet been referenced specifically in any publications.

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