Also known asEDS4A, EDSVASC, PMGEDSV
The COL3A1 gene provides instructions for making a protein called collagen, type III, alpha 1. This protein is a type of collagen, which is a structural protein that helps to form the extracellular matrix (ECM) of connective tissue in the body. The ECM provides support and strength to tissues and organs, and it is also involved in cell migration, differentiation, and communication. Collagen type III, alpha 1 is a major component of the ECM in various tissues, including the skin, blood vessels, and internal organs.
Mutations in the COL3A1 gene can cause a number of different disorders, depending on the specific mutation and the tissue affected. One disorder caused by COL3A1 mutations is Ehlers-Danlos syndrome (EDS), a group of inherited disorders that affect the connective tissue. EDS is characterized by hypermobility of the joints, skin that is easily bruised and scars easily, and skin that is highly elastic (hyperelastic). Other disorders caused by COL3A1 mutations include Bethlem myopathy, an inherited muscle disorder, and arterial rupture, which is characterized by the tearing of blood vessels. Treatment for disorders caused by COL3A1 mutations may include physical therapy, medications to manage pain and other symptoms, and surgery to repair damaged tissues or organs.