Cartilage associated protein

Cartilage Associated Protein (also known as CAP) is a protein that is encoded by the CRTAP gene in humans. It is a crucial component of the collagen complex, playing a significant role in the development and maintenance of cartilage and bone tissues.

Function

The Cartilage Associated Protein is a component of a larger complex that also includes prolyl 3-hydroxylase 1 and cyclophilin B. This complex is responsible for the 3-hydroxylation of a single proline residue (Pro986) in the alpha1(II) chain of type II collagen. The complex is also thought to play a role in the assembly of the procollagen molecule and its secretion from the cell.

Clinical significance

Mutations in the CRTAP gene, which encodes the Cartilage Associated Protein, can lead to a variety of genetic disorders, including forms of Osteogenesis imperfecta. Osteogenesis imperfecta, also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones, causing them to be fragile and break easily.

Research

Research into the Cartilage Associated Protein and its functions is ongoing. Understanding the role of this protein in the development and maintenance of cartilage and bone tissues could lead to new treatments for diseases such as osteogenesis imperfecta and other bone disorders.

See also

• Collagen
• Osteogenesis imperfecta
• Protein
• Bone disorders

References

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