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COL5A1 / Collagen V Alpha 1 is 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 this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants.
Gene Name: | collagen, type V, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL5A1, Collagen alpha-1(V) chain, Collagen, type V, alpha 1, Collagen alpha 1(v), Collagen V, Alpha 1 type V collagen |
Target Sequences: | NM_000093 BAA14323.1 P20908 |
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