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 thecytohesin/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) andPPIB.[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.
Mutations in the CRTAP gene are associated withosteogenesis imperfecta, types VII and IIB, a connective tissue disorder characterized by bone fragility and low bone mass.[8][9]
^Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, et al. (1999). "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)".Cytogenetics and Cell Genetics.87 (3–4):191–194.doi:10.1159/000015463.PMID10702664.S2CID24887051.
Castagnola P, Gennari M, Morello R, Tonachini L, Marin O, Gaggero A, et al. (June 1997). "Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein".Journal of Cell Science. 110.110 (12):1351–1359.doi:10.1242/jcs.110.12.1351.PMID9217321.
