Gene:
collagen, type V, alpha 2
Gene ID:
208816
Symbol:
COL5A2
Species:
1000
Description:
This gene 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. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Two transcripts that differ in the length of the 3'UTR due to the use of alternative polyadenylation signals have been identified for this gene.