Recombinant Human Collagen XI alpha 2 protein (ab158168)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      APPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSAPTRQLFPG GFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQT
    • Amino acids
      29 to 128
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158168 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
    • COBA2_HUMAN
    • COL11A2
    • Collagen alpha 2(XI)
    • Collagen alpha-2(XI) chain
    • Collagen type XI alpha 2
    • Collagen XI a2
    • DAQB-79P13.8
    • DFNA13
    • DFNB53
    • FBCG2
    • HGNC:2187
    • HKE5
    • PARP
    • Pro a2 chain of collagen type XI
    • STL3
    see all
  • Function
    May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
  • Involvement in disease
    Defects in COL11A2 are the cause of Stickler syndrome type 3 (STL3) [MIM:184840]. STL3 is an autosomal dominant non-ocular form of Stickler syndrome. Classical Stickler syndrome associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular symptoms are absent in STL3. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.
    Defects in COL11A2 are the cause of autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]. OSMED is a skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of autosomal dominant skeletal disorders (Stickler and Marshall syndromes) but can be distinguished by disproportionately short limbs and lack of ocular involvement.
    Defects in COL11A2 are the cause of Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]. WZS is an autosomal dominant disorder allelic with STL3 and OSMED. WZS is also referred to as heterozygous OSMED.
    Defects in COL11A2 are the cause of deafness autosomal dominant type 13 (DFNA13) [MIM:601868]. DFNA13 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
    Defects in COL11A2 are the cause of deafness autosomal recessive type 53 (DFNB53) [MIM:609706].
  • Sequence similarities
    Belongs to the fibrillar collagen family.
    Contains 1 fibrillar collagen NC1 domain.
    Contains 1 TSP N-terminal (TSPN) domain.
  • 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.
    A disulfide-bonded peptide called proline/arginine-rich protein or PARP is released from the N-terminus during extracellular processing and is subsequently retained in the cartilage matrix from which it can be isolated in significant amounts.
  • Cellular localization
    Secreted > extracellular space > extracellular matrix.
  • Information by UniProt

Images

  • ab158168 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158168 has not yet been referenced specifically in any publications.

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