Recombinant Human COL6A3/Collagen-VI Protein

Specifications

Catalog number

PKSH030495

Size / count

100 µg

Dry ice

No

Hazardous

No

Discontinued

No

Background

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.

Synonyms

COL6A3; Collagen-VI

UniProt

P12111

Accession Number

NP_004360.2

Expression System

HEK293 Cells

Tag

None

Sequence

Thr3101-Thr3177

Field of Research

Signal Transduction; Cancer

Endotoxin

< 1.0 EU per μg of the protein as determined by the LAL method.

Purity

> 95 % as determined by reducing SDS-PAGE.

Bioactivity

Not validated for activity

Reconstitution

Please refer to the printed manual for detailed information.

Shipping Conditions

This product is provided as lyophilized powder which is shipped with ice packs.

Storage Conditions

Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.

Calculated Molecular Weight

8.5 kDa

Citation 01

https://www.sciencedirect.com/science/article/pii/S1525001620302860

Species

Human