Cartilage associated protein
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[1][2]
Structure and function
[edit | edit source]The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli.[1]
CRTAP forms a tight protein complex with two other enzymes involved in post-translational modification: Leprecan (P3H1) and PPIB.[3] In this complex, CRTAP acts as a collagen-binding site, capturing substrates for subsequent enzymatic processing by P3H1 and PPIB. Notably, CRTAP exhibits a folding pattern similar to the N-terminal domain of P3H1.
Clinical significance
[edit | edit source]Mutations in the CRTAP gene are associated with osteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.[4][5]
References
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Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
