COL3A1 Gene
The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in the skin, lungs, intestinal walls, and the walls of blood vessels. Vascular Ehlers–Danlos syndrome is a rare inherited autosomal dominant disorder with an estimated prevalence of 1/150000. Patients are exposed to life-threatening complications, typically spontaneous arterial dissections and ruptures, bowel perforations and uterine ruptures. Many of the variants within the COL3A1 gene are heterozygous missense substitutions affecting one of the glycine residues of the [Gly-X-Y]343 repeat within the triple helical region of type III collagen, acting as dominant-negative variants.
