This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

  • Skeletal system development
  • Blood vessel development
  • Cell-matrix adhesion
  • Transforming growth factor beta receptor signaling pathway
  • Integrin-mediated signaling pathway
  • Ehlers-danlos syndrome, vascular type
  • Polymicrogyria with or without vascular-type ehlers-danlos syndrome
  • Acrogeria, gottron type
  • Familial thoracic aortic aneurysm and aortic dissection
  • Visual epilepsy

Pleiotrope. Structure of protein COL3A1.Based on PyMOL rendering of PDB 2V53.

Gene Location