COL5A1 encodes an alpha chain for one of the lowabundance fibrillar collagens. Fibrillar collagen molecules aretrimers that can be composed of one or more types of alpha chains.Type V collagen is found in tissues containing type I collagen andappears to regulate the assembly of heterotypic fibers composed ofboth type I and type V collagen. COL5A1 product is closelyrelated to type XI collagen and it is possible that the collagenchains of types V and XI constitute a single collagen type withtissue-specific chain combinations. Mutations in this gene areassociated with Ehlers-Danlos syndrome, types I and II.
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Protein Aliases: AB collagen; alpha1(V) collagen; COL5; Collagen 5; Collagen alpha-1(V) chain; collagen, type V, alpha 1; pro-alpha1(V) collagen; procollagen type V alpha 1; procollagen, type V, alpha 1; RP11-263F14.1; Type V Collagen
Gene Aliases: AI413331; COL5A1; EDSC