Western Blot (WB)
(Western Blot analysis of HuvEc cells using COL11A2 Polyclonal Antibody)
Rabbit anti-Human, Mouse COL11A2 Polyclonal Antibody | anti-COL11A2 antibody
COL11A2 Antibody
IHC: 1:100-1:300
ELISA: 1:20000
Western Blot (WB)
(Western Blot analysis of HuvEc cells using COL11A2 Polyclonal Antibody)
Western Blot (WB)
(Western Blot analysis of HuvEc cells using COL11A2 Polyclonal Antibody)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
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: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 6p21.3
Cellular Component: collagen type XI; endoplasmic reticulum lumen; extracellular region
Molecular Function: protein binding, bridging; protein binding; metal ion binding; extracellular matrix structural constituent conferring tensile strength
Biological Process: collagen catabolic process; extracellular matrix disassembly; extracellular matrix organization and biogenesis; sensory perception of sound; collagen fibril organization; cartilage development; soft palate development; palate development; skeletal development
Disease: Deafness, Autosomal Dominant 13; Weissenbacher-zweymuller Syndrome; Otospondylomegaepiphyseal Dysplasia; Deafness, Autosomal Recessive 53; Fibrochondrogenesis 2; Stickler Syndrome, Type Iii
Research Articles on COL11A2
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Product Notes
The COL11A2 col11a2 (Catalog #AAA7116152) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The COL11A2 Antibody reacts with Human, Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's COL11A2 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC), ELISA (EIA). WB: 1:500-1:2000 IHC: 1:100-1:300 ELISA: 1:20000. Researchers should empirically determine the suitability of the COL11A2 col11a2 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "COL11A2, Polyclonal Antibody" 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
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