COL1A2 Gene
The COL1A2 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. Rarely, mutations in both copies of the COL1A2 gene in each cell have been reported in people with a form of Ehlers-Danlos syndrome described as the cardiac valvular type. This rare condition is characterized by abnormalities of the valves in the heart, highly elastic skin, and joint hypermobility.
