COL1

COL1‏‎ or Collagen, type I is a protein that in humans is encoded by the COL1A1 and COL1A2 genes. It is one of the most abundant proteins in the body and is a major component of most connective tissues, including skin, bones, ligaments, and tendons.

Structure

COL1 is a fibrillar collagen that is composed of two alpha1(I) chains and one alpha2(I) chain. These chains form a triple helix, with each chain being over 1400 amino acids in length. The triple helix structure of COL1 is stabilized by the formation of hydrogen bonds and disulfide bonds.

Function

COL1 provides structure and strength to connective tissues. It also plays a role in the process of osteogenesis, or bone formation, and is crucial for the integrity of the extracellular matrix.

Clinical significance

Mutations in the COL1A1 and COL1A2 genes can lead to several genetic disorders, including Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Caffey disease. These disorders are characterized by fragile bones, skin hyperelasticity, and other connective tissue abnormalities.

See also

• Collagen
• Osteogenesis imperfecta
• Ehlers-Danlos syndrome
• Caffey disease

References

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