COL5A1 Polyclonal Antibody

COL5A1 encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. 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. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1 (V)-pro-alpha1 (V)-pro-alpha2 (V). Mutations in COL5A1 are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of COL5A1 results in multiple transcript variants.