CRTAP
Cartilage-Associated Protein (CRTAP)[edit | edit source]
Cartilage-Associated Protein, abbreviated as CRTAP, is a protein that plays a crucial role in the post-translational modification of collagen, a key structural protein in the human body. CRTAP is part of a complex that is essential for the proper folding and stability of collagen molecules, which are vital for the structural integrity of connective tissues.
Function[edit | edit source]
CRTAP is involved in the hydroxylation of proline residues in collagen. This process is critical for the stability of the collagen triple helix. CRTAP forms a complex with two other proteins, prolyl 3-hydroxylase 1 (P3H1) and cyclophilin B (CYPB), which together catalyze the 3-hydroxylation of proline residues in the collagen chains. This modification is important for the proper assembly and function of collagen fibrils.
Genetic Information[edit | edit source]
The CRTAP gene is located on chromosome 3 in humans. Mutations in the CRTAP gene can lead to a rare form of osteogenesis imperfecta, a genetic disorder characterized by brittle bones that are prone to fractures. This condition is also known as "brittle bone disease."
Clinical Significance[edit | edit source]
Deficiencies in CRTAP function due to genetic mutations can result in a spectrum of connective tissue disorders. The most notable is osteogenesis imperfecta type VII, which is characterized by severe bone fragility, growth deficiency, and other skeletal abnormalities. Understanding the role of CRTAP in collagen biosynthesis has important implications for the diagnosis and treatment of these disorders.
Research and Developments[edit | edit source]
Recent studies have focused on the molecular mechanisms by which CRTAP and its associated proteins influence collagen stability and how mutations disrupt these processes. Advances in genetic sequencing and molecular biology techniques have facilitated the identification of CRTAP mutations in patients with osteogenesis imperfecta, providing insights into the pathophysiology of the disease and potential therapeutic targets.
Also see[edit | edit source]
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