Collagen, type II, alpha 1

Collagen, type II, alpha 1 (also known as COL2A1) is a protein that in humans is encoded by the COL2A1 gene. It is one of the essential proteins that make up the extracellular matrix in various connective tissues, including cartilage, the vitreous humor of the eye, and the intervertebral disc.

Structure

COL2A1 is a fibrillar collagen that is composed of three alpha1(II) chains. These chains form a triple helix, with each chain being over 1400 amino acids long. The triple helix structure of COL2A1 is typical of all collagens and is crucial for the stability and function of the protein.

Function

COL2A1 is the primary collagen in cartilage and is essential for the structural integrity of this tissue. It provides tensile strength, helps resist compression, and contributes to the overall resilience of cartilage. In the vitreous humor of the eye, COL2A1 helps maintain the transparency and shape of the eyeball. In the intervertebral disc, it contributes to the disc's ability to absorb shock and resist deformation.

Clinical significance

Mutations in the COL2A1 gene can lead to several disorders, including Achondrogenesis, Spondyloepiphyseal dysplasia, and Osteoarthritis. These disorders are characterized by abnormalities in the structure and function of the affected tissues, often leading to pain, disability, and other complications.

See also

• Collagen
• Extracellular matrix
• Cartilage
• Vitreous humor
• Intervertebral disc

References

This article is a stub related to genetics. You can help WikiMD by expanding it!