Mutations in the Col2a1 gene are associated with several disorders, most notably chondrodysplasias and Osteoarthritis. Chondrodysplasias are a group of genetic disorders affecting cartilage and bone development, leading to skeletal abnormalities. Osteoarthritis, a degenerative joint disease, involves the breakdown of cartilage where Col2a1 plays a crucial role. These conditions underscore the importance of Col2a1 in maintaining healthy cartilage.
