Gene COL1A2
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Also known as
OI4, collagen type I alpha 2 chainOverview
COL1A2 (Collagen Type I Alpha 2 Chain) encodes the alpha-2 chain of type I collagen, the most abundant protein in the human body. Type I collagen is a triple helix composed of two alpha-1 chains and one alpha-2 chain, and it provides structural support to skin, bones, tendons, ligaments, and other connective tissues.Mutations in COL1A2 can cause osteogenesis imperfecta (brittle bone disease), Ehlers-Danlos syndrome, and other connective tissue disorders. These conditions are characterized by bone fragility, joint hypermobility, and skin abnormalities. Common genetic variants in COL1A2 may also influence skin aging, wound healing, and susceptibility to stretch marks.
Understanding your COL1A2 genetic status has implications for skin health and aging. Collagen production decreases with age, and individuals with certain variants may benefit from collagen-supporting interventions including vitamin C, glycine supplementation, and topical retinoids to maintain skin elasticity and structure.