What genes are related to Ehlers-Danlos syndrome, vascular type?
Mutations in the COL3A1 gene cause Ehlers-Danlos
syndrome, Vascular Type found on the long of Chromosome 2. The protein
made by the COL3A1 gene is used to assemble larger molecules called
type III collagens. Collagens provide structure and strength to
connective tissue throughout the body. Type III collagen is mostly
found in skin, blood vessels, and internal organs. If the structure or
production of type III collagen is altered by a mutation in the COL3A1
gene, collagen fibrils cannot be assembled properly in these tissues,
and the symptoms of Ehlers-Danlos syndrome result.