COL6A3 recombinant protein

COL6A3 Protein, Human, Recombinant

Cat. Num. AAA8122050

• Purity: >95% as determined by SDS-PAGE
• Synonyms: COL6A3; COL6A3 Protein; Human; Recombinant; Human COL6A3/Collagen-VI Protein; collagen; type VI; alpha 3; COL6A3 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Thr3101-Thr3177

• Species: Human
• Endotoxin: <1.0EU per ug protein as determined by the LAL method.
• Predicted N Terminal: Thr 3101
• Tag: N-cleavage
• Protein Construction: A DNA sequence encoding the human COL6A3 (NP_004360.2)(Thr3101-Thr3177) was expressed.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

NCBI and Uniprot Product Information

• NCBI GI #: 55743098
• NCBI GeneID: 1293
• NCBI Accession #: NP_004360.2
• NCBI GenBank Nucleotide #: NM_004369.3
• UniProt Accession #: P12111; Q16501; Q53QF4; Q53QF6; A8MT30; B7ZMJ7; E9PFQ6
• Molecular Weight: 343,669 Da
• NCBI Official Full Name: collagen alpha-3(VI) chain isoform 1
• NCBI Official Synonym Full Names: collagen, type VI, alpha 3
• NCBI Official Symbol: COL6A3
• NCBI Protein Information: collagen alpha-3(VI) chain; collagen alpha-3(VI) chain; collagen VI, alpha-3 polypeptide
• UniProt Protein Name: Collagen alpha-3(VI) chain
• Protein Family: Collagen
• UniProt Gene Name: COL6A3
• UniProt Entry Name: CO6A3_HUMAN

NCBI Description

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 Description

COL6A3: Collagen VI acts as a cell-binding protein. Defects in COL6A3 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 COL6A3 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. 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: 2q37

Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; endoplasmic reticulum lumen; extracellular region; collagen type VI; vesicle; sarcolemma

Molecular Function: serine-type endopeptidase inhibitor activity

Biological Process: axon guidance; extracellular matrix disassembly; collagen catabolic process; muscle development; extracellular matrix organization and biogenesis; cell adhesion

Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy; Dystonia 27