COL1A1 gene

The COL1A1 gene provides instructions for making part of collagen, the main protein that gives strength and structure to skin, bones, tendons, and other tissues. It plays a crucial role in maintaining the integrity and resilience of these tissues. If there are mutations or changes in the COL1A1 gene, it can lead to disorders like Osteogenesis Imperfecta, which causes brittle bones, or Ehlers-Danlos syndrome, affecting skin and joint flexibility. Essentially, COL1A1 is vital for producing sturdy collagen fibers essential for the body's structural support.