Description

  • Product name

    Recombinant Human COL6A1 protein
  • Expression system

    Wheat germ
  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      ALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIE IFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFH QTVSRKVALG
    • Amino acids

      919 to 1028
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158161 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

    • Alpha 1 (VI) chain (61 AA)
    • CO6A1_HUMAN
    • COL6A1
    • Collagen
    • Collagen alpha-1(VI) chain
    • Collagen VI, alpha 1 polypeptide
    • Collagen, intimal short chain collagen
    • Collagen, type VI, alpha 1
    • OPLL
    • OTTHUMP00000115501
    see all
  • Function

    Collagen VI acts as a cell-binding protein.
  • Involvement in disease

    Defects in COL6A1 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 COL6A1 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.
  • 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.
  • Information by UniProt

Images

  • ab158161 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158161 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab158161.
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