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
COL3A1 Localizations – Subcellular Localization Database
Pleiotrope. Structure of protein COL3A1.Based on PyMOL rendering of PDB 2V53.