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, Jul 2008]

  • Skeletal system development
  • Ossification
  • Extracellular matrix organization
  • Collagen fibril organization
  • Skin development
  • Ehlers-danlos syndrome, classic type, 2
  • Classic ehlers-danlos syndrome
  • Ehlers-danlos syndrome, classic type, 1
  • Ehlers-danlos syndrome
  • Marfan syndrome

COL5A2 Localizations – Subcellular Localization Database

Gene Location