EDS4A antibody, AW550625 antibody, Col3a-1 antibody, MMS10-W antibody, Ms10w antibody, mKIAA4231 antibody, col3a1 antibody, collagen type III alpha 1 chain antibody, collagen, type III, alpha 1 antibody, collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) S homeolog antibody, COL3A1 antibody, Col3a1 antibody, col3a1 antibody, col3a1.S antibody
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.