Product Name
COL6A3, Polyclonal Antibody
Full Product Name
COL6A3 Polyclonal Antibody
Product Gene Name
anti-COL6A3 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for P12111
Other Notes
Small volumes of anti-COL6A3 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for COL6A3. It may not necessarily be applicable to this product.
NCBI Accession #
NP_004360.2
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NCBI GenBank Nucleotide #
NM_004369.3
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UniProt Primary Accession #
P12111
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UniProt Secondary Accession #
Q16501; Q53QF4; Q53QF6; A8MT30; B4E3U5; B7ZMJ7; E9PFQ6; E9PGQ9[Other Products]
UniProt Related Accession #
P12111[Other Products]
Molecular Weight
134,707 Da
NCBI Official Full Name
collagen alpha-3(VI) chain isoform 1
NCBI Official Synonym Full Names
collagen type VI alpha 3 chain
NCBI Official Symbol
COL6A3??[Similar Products]
NCBI Official Synonym Symbols
DYT27; UCMD1; BTHLM1
??[Similar Products]
NCBI Protein Information
collagen alpha-3(VI) chain
UniProt Protein Name
Collagen alpha-3(VI) chain
UniProt Gene Name
COL6A3??[Similar Products]
NCBI Summary for COL6A3
This 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]
UniProt Comments for COL6A3
Collagen VI acts as a cell-binding protein.
Research Articles on COL6A3
1. COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution.
Precautions
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Disclaimer
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