COL3A1

Description 
collagen alpha-1(III) chain collagen, fetal alpha1 (III) collagen Ehlers-Danlos syndrome type IV, autosomal dominant

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. [provided by R. Dalgleish, Feb 2008]

 

Aliases 
EDS4A
Chromosomal Locations 
2q31