Gene:
collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
Gene ID:
194820
Symbol:
COL3A1
Species:
1000
Description:
This gene encodes a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.