Anti-Collagen XI alpha 2 antibody - N-terminal (ab227955)

Overview

  • Product name
    Anti-Collagen XI alpha 2 antibody - N-terminal
    See all Collagen XI alpha 2 primary antibodies
  • Description
    Rabbit polyclonal to Collagen XI alpha 2 - N-terminal
  • Host species
    Rabbit
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Cow
  • Immunogen

    Recombinant fragment within Human Collagen XI alpha 2 (N terminal). The exact sequence is proprietary.
    Database link: P13942

  • Positive control
    • WB: Collagen XI alpha 2 transfected HEK-293T whole cell extract.

Properties

Applications

Our Abpromise guarantee covers the use of ab227955 in the following tested applications.

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

Application Abreviews Notes
WB 1/1000 - 1/10000. Predicted molecular weight: 172 kDa.

Target

  • 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
  • Database links
  • Alternative names
    • COBA2_HUMAN antibody
    • COL11A2 antibody
    • Collagen alpha 2(XI) antibody
    • Collagen alpha-2(XI) chain antibody
    • Collagen type XI alpha 2 antibody
    • Collagen XI a2 antibody
    • DAQB-79P13.8 antibody
    • DFNA13 antibody
    • DFNB53 antibody
    • FBCG2 antibody
    • HGNC:2187 antibody
    • HKE5 antibody
    • PARP antibody
    • Pro a2 chain of collagen type XI antibody
    • STL3 antibody
    see all

Images

  • All lanes : Anti-Collagen XI alpha 2 antibody - N-terminal (ab227955) at 1/5000 dilution

    Lane 1 : HEK-293T (human epithelial cell line from embryonic kidney transformed with large T antigen) whole cell extract
    Lane 2 : Collagen XI alpha 2 (partial fragment) transfected HEK-293T (human epithelial cell line from embryonic kidney transformed with large T antigen) whole cell extract

    Lysates/proteins at 30 µg per lane.

    Predicted band size: 172 kDa



    12% SDS-PAGE gel.

References

ab227955 has not yet been referenced specifically in any publications.

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