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COL5A3 / Collagen V Alpha 3 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. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages.
Gene Name: | collagen, type V, alpha 3 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL5A3, Collagen V Alpha3, Collagen, type V, alpha 3, Pro-(alpha)3(V) collagen, Collagen alpha-3(V) chain |
Target Sequences: | NM_015719 NP_056534.2 P25940 |
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