Col11a2 blocking peptide
Col11a2 Immunizing Peptide
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the alpha-2 subunit of type XI collagen, one of the low abundance fibrillar collagens found in cartilage. The encoded protein, in association with other collagen subunits, forms a heterotrimeric type XI procollagen that may undergo proteolytic processing similar to the alpha-1 subunit. Mice lacking the encoded protein exhibit a mild phenotype similar to nonocular Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED) as well as a nonsyndromic form of deafness called DFNA13. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Uniprot Description
COL11A2: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils. Defects in COL11A2 are the cause of Stickler syndrome type 3 (STL3). 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). 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). 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). 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). Defects in COL11A2 are the cause of fibrochondrogenesis type 2 (FBCG2). A severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia. Belongs to the fibrillar collagen family. 9 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Cellular Component: collagen; collagen type XI; extracellular region; proteinaceous extracellular matrix
Molecular Function: extracellular matrix structural constituent; metal ion binding
Biological Process: cartilage development; chondrocyte differentiation; collagen fibril organization; ossification; palate development; sensory perception of sound; skeletal development; skeletal morphogenesis; soft palate development; tissue homeostasis
Research Articles on Col11a2
Similar Products
Product Notes
The Col11a2 col11a2 (Catalog #AAA428565) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. The Col11a2 Immunizing Peptide reacts with Mouse and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: C-HKPQSQEP QKQYP. It is sometimes possible for the material contained within the vial of "Col11a2, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
