General 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. (provided by RefSeq)
Biochem/physiol Actions
Collagen type Vα1 chain (COL5A1) intercalates with type I collagen and forms collagen fibrils. Mutations in the gene claims to affect mechanical properties of collagenous tissues and lead to musculoskeletal diseases. In addition, polymorphism in the gene is also associated with the development of vascular Ehlers-Danlos syndrome (EDS), which is characterized by fragile, hyperextensible skin and joint laxity.
