Cartilage associated protein explained

Cartilage associated protein is a protein that in humans is encoded by the CRTAP gene.^{[1] [2]}

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.^[1]

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.^{[3] [4]}

Further reading

• Marini JC, Cabral WA, Barnes AM . Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. . Cell Tissue Res. . 339 . 1 . 59–70 . 2010 . 19862557 . 10.1007/s00441-009-0872-0 . 3156555.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Morello R, Bertin TK, Chen Y . CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. . Cell . 127 . 2 . 291–304 . 2006 . 17055431 . 10.1016/j.cell.2006.08.039 . 8123837 . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Chang W, Barnes AM, Cabral WA . Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. . Hum. Mol. Genet. . 19 . 2 . 223–34 . 2010 . 19846465 . 10.1093/hmg/ddp481 . 2796888 . etal.
• Li GH, Kung AW, Huang QY . Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. . Osteoporos Int . 21 . 6 . 1009–20 . 2010 . 19727905 . 2946578 . 10.1007/s00198-009-1043-6 .
• Bodian DL, Chan TF, Poon A . Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. . Hum. Mol. Genet. . 18 . 3 . 463–71 . 2009 . 18996919 . 10.1093/hmg/ddn374 . 2638801 . etal.
• Morello R, Tonachini L, Monticone M . cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein. . Matrix Biol. . 18 . 3 . 319–24 . 1999 . 10429950 . 10.1016/S0945-053X(99)00002-5 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Castagnola P, Gennari M, Morello R . Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein. . 110 . J. Cell Sci. . (Pt 12) . 1351–9 . 1997 . 12 . 10.1242/jcs.110.12.1351 . 9217321 . etal.
• Sowa ME, Bennett EJ, Gygi SP, Harper JW . Defining the human deubiquitinating enzyme interaction landscape. . Cell . 138 . 2 . 389–403 . 2009 . 19615732 . 10.1016/j.cell.2009.04.042 . 2716422 .
• Van Dijk FS, Nesbitt IM, Nikkels PG . CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. . Eur. J. Hum. Genet. . 17 . 12 . 1560–9 . 2009 . 19550437 . 2987020 . 10.1038/ejhg.2009.75 . etal.

Notes and References

1. Web site: Entrez Gene: cartilage associated protein.
2. Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P . cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP) . Cytogenet. Cell Genet. . 87 . 3–4 . 191–4 . 1999 . 10702664 . 10.1159/000015463. 24887051 .
3. Barnes AM, Chang W, Morello R . Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta . N. Engl. J. Med. . 355 . 26 . 2757–64 . December 2006 . 17192541 . 10.1056/NEJMoa063804 . 7509984 . etal.
4. Baldridge D, Schwarze U, Morello R . CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta . Hum. Mutat. . 29 . 12 . 1435–42 . December 2008 . 18566967 . 10.1002/humu.20799 . 2671575. etal.