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    GlossaryCOL1A2

    gene encoding part of type I collagen, crucial for connective tissues

    COL1A2 is a gene that encodes for the alpha-2 chain of type I collagen, which is a crucial protein in the human body. Type I collagen is the most abundant collagen and is essential for the strength and structure of connective tissues, including skin, bones, and tendons. Mutations in the COL1A2 gene can lead to various connective tissue disorders, such as osteogenesis imperfecta, which is characterized by brittle bones.

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