Tissue expression
Cell line expression
Protein structure
COL6A3
Collagen type VI alpha 3 chainThis gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
Top validated antibodies |
|||||
Biorbyt | orb2211664 | Polyclonal |
WB
ICC
IP
IHC |
||
Abnova Corporation | PAB17517 | 1 references | Polyclonal |
ICC
IHC |
|
antibodies-online | ABIN4299697 | Polyclonal |
WB
ICC
IHC
|
||
Cusabio Biotech Co., Ltd | CSB-PA007093 | Polyclonal |
EL
ICC
IHC
|
||
Aviva Systems Biology | OAAF02910 | Polyclonal |
EL
ICC
IHC
|
All Antibodies
Filters
Enhanced validation
Supportive data in Antibodypedia
Data presented on provider website
Data in Antibodypedia (inconclusive)
Recommended by provider
Supportive data in Antibodypedia
Data presented on provider website
Data in Antibodypedia (inconclusive)
Recommended by provider