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Collagens are highly conserved through evolution and are characterized by an uninterrupted Glycine-X-Y triplet repeat that is a necessary part of the triple helical structure. Type I collagen, the fibrillar collagen found in most connective tissues, is the only component of the collagen found in cartilage. Mutations in this gene 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. Type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. Col3 is a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Collagen IV is a magor consitiuent of the basement membranes along with laminins and enactins. It is composed of alpha 1 IV chain and alpha 2 IV chain in 2:1 ratio. It can form insoluble fibers with high tensile strength. Antibody to collagen IV is useful in detecting the loss of parts of basement membrane in carcinomas. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II.
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