Testing Data
Rabbit COL6A2 Polyclonal Antibody | anti-COL6A2 antibody
COL6A2 Antibody
IHC: 1:20-1:200
Testing Data
Testing Data
NCBI and Uniprot Product Information
NCBI Description
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
COL6A2: Collagen VI acts as a cell-binding protein. Defects in COL6A2 are a cause of Bethlem myopathy (BM). 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 COL6A2 are a cause of Ullrich congenital muscular dystrophy (UCMD); 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. Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR); also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. Belongs to the type VI collagen family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide; Extracellular matrix
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; protein complex; collagen; endoplasmic reticulum lumen; extracellular region; vesicle; sarcolemma
Molecular Function: protein binding
Biological Process: collagen catabolic process; axon guidance; extracellular matrix disassembly; extracellular matrix organization and biogenesis; response to glucose stimulus; cell adhesion
Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy; Myosclerosis, Autosomal Recessive
Research Articles on COL6A2
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Product Notes
The COL6A2 col6a2 (Catalog #AAA2517083) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The COL6A2 Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's COL6A2 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC). WB: 1:200-1:2000 IHC: 1:20-1:200. Researchers should empirically determine the suitability of the COL6A2 col6a2 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 "COL6A2, 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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