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COL5A2 / Collagen V Alpha 2
collagen, type V, alpha 2
COL5A2 / Collagen V Alpha 2 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 associated with Ehlers-Danlos syndrome, types I and II.
| Gene Name: | collagen, type V, alpha 2 |
| Family/Subfamily: | Collagen , not assigned-Collagen |
| Synonyms: | COL5A2, AB collagen, Collagen, type V, alpha 2, Collagen alpha 2(v), Collagen alpha-2(V) chain |
| Target Sequences: | NM_000393 NP_000384.2 P05997 |
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