COL1A1 Gene
The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye. COL1A1 gene mutations are also a very rare cause of the classical and vascular types of Ehlers-Danlos syndrome. The classical type is characterized by skin that is soft, highly elastic, and fragile; abnormal scarring; and joint hypermobility. Additionally, people with classical Ehlers-Danlos syndrome resulting from a COL1A1 gene mutation are prone to the rupture of major arteries in adulthood. The vascular type is associated with rupture of blood vessels, intestines, and other organs.
