| Altername | OI1; OI2; OI3; OI4; EDSC |
| Recommended Dilutions | WB: 1:1000-1:5000, IHC: 1:200-1:1000, ICC/IF: 1:200-1:2000 |
| Formulation | Store at -20°C. Supplied in 50mM Tris-Glycine(pH 7.4), 0.15M NaCl, 40%Glycerol, 0.01% sodium azide and 0.05% BSA. Stable for 12 months from date of receipt. |
| Purification | Affinity Purification |
| Storage/Stability | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles. |
| Specificity | IgG |
| Molecular Weight | 139 kDa |
| Immunogen | A synthetic peptide of human Collagen I |
| Conjugate | Unconjugated |
| Modification | Unmodification |
| Swiss-Prot No | P02452 |
Background
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.
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