COL5A1 gene

The COL5A1 gene provides instructions for making a part of collagen, specifically type V collagen, which helps strengthen and support connective tissues like skin, tendons, and ligaments. Variations or changes in this gene can affect the quality and strength of collagen, potentially leading to conditions such as Ehlers-Danlos syndrome, characterized by flexible joints and fragile skin. Essentially, COL5A1 plays a crucial role in the structure and integrity of tissues that hold our body together.