Genetic Test
The COL5A1 gene encodes type V collagen, a fibrous form of collagen protein. It is found in various connective tissues and is responsible for structural properties such as elasticity.
Disease Description
This genetic disorder is caused by problems with collagen structure and synthesis. It results in fragile and thin skin that can tear easily with minor trauma and abnormally loose joints, leading to frequent dislocations and lameness. The eyes, heart, diaphragm, blood vessels, and other tissues and membranes in the body can also be weakened, causing heart and vascular diseases.
