Cartilage associated protein
Protein found in humans
From Wikipedia, the free encyclopedia
Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.[5][6]
| CRTAP | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CRTAP, CASP, LEPREL3, OI7, P3H5, cartilage associated protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605497; MGI: 1891221; HomoloGene: 21280; GeneCards: CRTAP; OMA:CRTAP - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Structure and function
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.[5]
CRTAP forms a tight protein complex with two other enzymes involved in post-translational modification: Leprecan (P3H1) and PPIB.[7] 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
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.[8][9]
