Collagens are highly conserved throughout evolution and are characterised by an uninterrupted ""Glycine X Y"" triplet repeat that is a necessary part of the triple helical structure. For these reasons it is often extremely difficult to generate antibodies with specificities to collagens. The development of type specific antibodies is dependent on NON DENATURED three dimensional epitopes. This preparation results in a native conformation of the protein. Type I collagen (95 kDa) is found in bone, cornea, skin and tendon. Mutations in the gene encoding collagen 1 are associated with osteogenesis imperfecta, Ehlers Danlos syndrome, 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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Protein Aliases: AB collagen; alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; Alpha-1 type I collagen; Alpha-1 type II collagen; Alpha-2 type I collagen; alpha1 (III) collagen; alpha1(I) procollagen; Arresten; arthroophthalmopathy, progressive (Stickler syndrome); Canstatin; cartilage collagen; Chondrocalcin; COL4A1 NC1 domain; Collagen 1; Collagen 2; Collagen 3; Collagen 4; Collagen 5; collagen alpha 1 chain type I; Collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; Collagen alpha-1(II) chain; Collagen alpha-1(III) chain; Collagen alpha-1(IV) chain; Collagen alpha-1(V) chain; Collagen alpha-2(I) chain; Collagen alpha-2(IV) chain; Collagen alpha-2(V) chain; Collagen alpha-3(IV) chain; Collagen alpha-3(V) chain; Collagen alpha-4(IV) chain; Collagen alpha-5(IV) chain; Collagen alpha-6(IV) chain; collagen I, alpha-2 polypeptide; collagen II, alpha-1 polypeptide; collagen IV, alpha-1 polypeptide; collagen IV, alpha-3 polypeptide; Collagen IV, alpha-4 polypeptide; collagen IV, alpha-5 polypeptide; collagen IV, alpha-6 polypeptide; collagen of basement membrane, alpha-1 chain; collagen of basement membrane, alpha-4 chain; collagen of basement membrane, alpha-5 chain; collagen of basement membrane, alpha-6; collagen of skin, tendon and bone, alpha-1 chain; collagen of skin, tendon and bone, alpha-2 chain; collagen, fetal; collagen, fetal membrane, A polypeptide; collagen, type I, alpha 1; collagen, type I, alpha 2; collagen, type II, alpha 1; collagen, type III, alpha 1; collagen, type IV, alpha 1; collagen, type IV, alpha 3 (Goodpasture antigen); collagen, type IV, alpha 4; collagen, type IV, alpha 5; collagen, type IV, alpha 6; collagen, type V, alpha 1; collagen, type V, alpha 2; collagen, type V, alpha 3; dA149D17.3; dA24A23.1; dJ889N15.4 (Collagen Alpha 6(IV)); Ehlers-Danlos syndrome type IV, autosomal dominant; Goodpasture antigen; pan Collagen; pro-(alpha)3(V) collagen; pro-alpha-1 collagen type 1; Tumstatin; type I proalpha 1; type I procollagen; type I procollagen alpha 1 chain; type V preprocollagen alpha 2 chain
Gene Aliases: ANFH; AOM; ASLN; ATS; BSVD; CA44; CA54; COL11A3; COL1A1; COL1A2; COL2A1; COL3A1; COL4A1; COL4A2; COL4A3; COL4A4; COL4A5; COL4A6; COL5A1; COL5A2; COL5A3; CXDELq22.3; DELXq22.3; DFNX6; EDS4A; EDSC; ICH; OI1; OI2; OI3; OI4; POREN2; RATOR; SEDC; STL1
UniProt ID: (Human) P02452, (Human) Q9UMI1, (Human) P02458, (Human) P02461, (Human) P02462, (Human) P08572, (Human) Q01955, (Human) P53420, (Human) P29400, (Human) Q14031, (Human) P20908, (Human) P05997, (Human) P25940