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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
Alternative Names
alpha-1 type III collagen alpha-1 type-III collagen precursor alpha-1(III) procollagen alpha1 (III) collagen COL 3 COL3 COL3 alpha 1 Collagen 3 collagen fetal collagen type III alpha 1 collagen type III alpha 1 (Ehlers-Danlos syndrome type IV autosomal dominant) collagen type III alpha 1 chain fibril forming Collagen3 Ehlers-Danlos syndrome type IV autosomal dominant FLJ34534 MGC93704 procollagen type III alpha 1 type III collagen