Alias |
Alpha 1 type III collagen,Alpha1 (III) collagen,CO3A1,COL 3A1,COL3A1,Collagen alpha 1(III) chain,Collagen alpha-1(III) chain,Collagen III alpha 1 chain precursor,Collagen III alpha 1 polypeptide,Collagen type III alpha 1 (Ehlers Danlos syndrome type IV autosomal dominant),Collagen type III alpha 1,Collagen type III alpha 1 chain,Collagen type III alpha,Collagen,fetal,EDS4A,Ehlers Danlos syndrome type IV,autosomal dominant,Fetal collagen,Type III collagen |
Background |
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. |