Anti-Collagen VI/COL6A1 Antibody (CAB9738)
- SKU:
- CAB9738
- Product Type:
- Antibody
- Antibody Type:
- Monoclonal Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Synonyms:
- BTHLM1
- Synonyms:
- OPLL
- Synonyms:
- UCHMD1
- Research Area:
- Cell Biology
Description
| Product Name: | Collagen VI/COL6A1 Rabbit mAb |
| Product Code: | CAB9738 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | BTHLM1, OPLL, UCHMD1 |
| Applications: | WB, IHC |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | A synthesized peptide derived from human Collagen VI/COL6A1 |
| Applications: | WB, IHC |
| Recommended Dilutions: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | Mouse lung, Rat heart |
| Immunogen: | A synthesized peptide derived from human Collagen VI/COL6A1 |
| Purification Method: | Affinity purification |
| Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 1291 |
| Uniprot: | P12109 |
| Cellular Location: | Secreted, extracellular matrix, extracellular space |
| Calculated MW: | 147kDa |
| Observed MW: | 140kDa |
| UniProt Protein Function: | COL6A1: Collagen VI acts as a cell-binding protein. Defects in COL6A1 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 COL6A1 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. |
| UniProt Protein Details: | Protein type:Secreted; Secreted, signal peptide; Extracellular matrix Chromosomal Location of Human Ortholog: 21q22.3 Cellular Component: endoplasmic reticulum lumen; extracellular matrix; extracellular region; lysosomal membrane; membrane; protein complex Molecular Function:platelet-derived growth factor binding Biological Process: collagen catabolic process; extracellular matrix organization and biogenesis; osteoblast differentiation Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy |
| NCBI Summary: | The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P12109 |
| NCBI GenInfo Identifier: | 125987811 |
| NCBI Gene ID: | 1291 |
| NCBI Accession: | P12109.3 |
| UniProt Secondary Accession: | P12109,O00117, O00118, Q14040, Q14041, Q16258, Q7Z645 Q9BSA8, |
| UniProt Related Accession: | P12109 |
| Molecular Weight: | 108,529 Da |
| NCBI Full Name: | Collagen alpha-1(VI) chain |
| NCBI Synonym Full Names: | collagen type VI alpha 1 chain |
| NCBI Official Symbol: | COL6A1 |
| NCBI Official Synonym Symbols: | OPLL; BTHLM1; UCHMD1 |
| NCBI Protein Information: | collagen alpha-1(VI) chain |
| UniProt Protein Name: | Collagen alpha-1(VI) chain |
| Protein Family: | Collagen |
| UniProt Gene Name: | COL6A1 |
| UniProt Entry Name: | CO6A1_HUMAN |
Related Products
