Collagen, type I, alpha 1

Collagen, type I, alpha 1 (also known as COL1A1) is a protein that in humans is encoded by the COL1A1 gene. It is one of the many types of collagen found in the body and plays a crucial role in the structure and integrity of various tissues, including skin, bone, tendon, and ligament.

Structure

COL1A1 is a fibrillar collagen that is composed of two alpha 1(I) chains and one alpha 2(I) chain. These chains form a triple helix structure, which is a characteristic feature of all collagens. The alpha 1(I) chains are encoded by the COL1A1 gene, while the alpha 2(I) chain is encoded by the COL1A2 gene.

Function

The primary function of COL1A1 is to provide structural support and strength to the tissues where it is found. It is the most abundant collagen in the human body, making up about 90% of the collagen content in bone, skin, and tendon. In addition to its structural role, COL1A1 also plays a role in cell adhesion, tissue repair, and fibrosis.

Clinical significance

Mutations in the COL1A1 gene can lead to several genetic disorders, including Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Caffey disease. These disorders are characterized by fragile bones, skin hyperextensibility, and inflammation of the bone, respectively.

See also

• Collagen, type I, alpha 2
• Osteogenesis imperfecta
• Ehlers-Danlos syndrome
• Caffey disease