Collagen Type III Alpha 1 (COL3a1)

Collagen alpha-1(III) chain is 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.

By fluorescence in situ hybridization, Limongi et al. (1997) concluded that the COL3A1 gene is located in chromosome band 2q32.2 and that the nebulin gene is located in band 2q24.2; the FRA2G fragile site was found to lie between the 2 genes in the 2q31 band.