COL6A3 Antibody (PACO23316)
- SKU:
- PACO23316
- Product Type:
- Antibody
- Reactivity:
- Human
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- IHC
- IF
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Frequently bought together:
Description
| Antibody Name: | COL6A3 Antibody (PACO23316) |
| Antibody SKU: | PACO23316 |
| Size: | 100ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, IHC, IF |
| Recommended Dilutions: | ELISA:1:2000-1:10000, IHC:1:50-1:100, IF:1:100-1:500 |
| Species Reactivity: | Human, Mouse |
| Immunogen: | Synthesized peptide derived from internal of human Collagen VI alpha 3. |
| Form: | Liquid |
| Storage Buffer: | Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
| Purification Method: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
 | Immunohistochemistry analysis of paraffin-embedded human breast carcinoma tissue using Collagen VI alpha 3 antibody. |
 | Immunofluorescence analysis of HeLa cells, using Collagen VI alpha 3 antibody. |
| Background: | Collagen VI acts as a cell-binding protein. |
| Synonyms: | Collagen alpha-3(VI) chain; CO6A3; |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Extracellular matrix; Secreted; Secreted, signal peptide Chromosomal Location of Human Ortholog: 2q37 Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular space; endoplasmic reticulum lumen; extracellular region; collagen type VI; sarcolemma; vesicle Molecular Function:serine-type endopeptidase inhibitor activity Biological Process: extracellular matrix disassembly; axon guidance; collagen catabolic process; muscle development; extracellular matrix organization and biogenesis; cell adhesion Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy; Dystonia 27 |
| NCBI Summary: | 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 Code: | P12111 |
| NCBI GenInfo Identifier: | 3127926 |
| NCBI Gene ID: | 1293 |
| NCBI Accession: | CAA36267.1 |
| UniProt Secondary Accession: | P12111,Q16501, Q53QF4, Q53QF6, A8MT30, B4E3U5, B7ZMJ7 E9PFQ6, E9PGQ9, |
| UniProt Related Accession: | P12111 |
| Molecular Weight: | 134,707 Da |
| NCBI Full Name: | collagen type VI, alpha 3 chain |
| NCBI Synonym Full Names: | collagen, type VI, alpha 3 |
| NCBI Official Symbol: | COL6A3Â Â |
| 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: | Zinc finger protein CONSTANS |
| UniProt Gene Name: | COL6A3Â Â |
| UniProt Entry Name: | CO6A3_HUMAN |
| Secondary Antibody |
| Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014) |
| Recommended Products |
| Anti-FITC Goat Anti-Rabbit IgG (H+L) Antibody (CABS011) |
| Anti-HRP-conjugated Beta Actin Antibody (CABC028) |
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