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]
References
↑ 1.0 1.1 "Entrez Gene: cartilage associated protein" .↑ Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P (1999). "cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP)". Cytogenet. Cell Genet . 87 (3–4): 191–4. doi :10.1159/000015463 . PMID 10702664 . ↑ Barnes AM, Chang W, Morello R, et al. (December 2006). "Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta" . N. Engl. J. Med . 355 (26): 2757–64. doi :10.1056/NEJMoa063804 . PMID 17192541 . ↑ Baldridge D, Schwarze U, Morello R, et al. (December 2008). "CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta" . Hum. Mutat . 29 (12): 1435–42. doi :10.1002/humu.20799 . PMC 2671575 PMID 18566967 .
Further reading
Marini JC, Cabral WA, Barnes AM (2010). "Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta" . Cell Tissue Res . 339 (1): 59–70. doi :10.1007/s00441-009-0872-0 . PMC 3156555 PMID 19862557 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Morello R, Bertin TK, Chen Y, et al. (2006). "CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta". Cell . 127 (2): 291–304. doi :10.1016/j.cell.2006.08.039 . PMID 17055431 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 . PMID 14702039 . Chang W, Barnes AM, Cabral WA, et al. (2010). "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. doi :10.1093/hmg/ddp481 . PMC 2796888 PMID 19846465 . Li GH, Kung AW, Huang QY (2010). "Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women" . Osteoporos Int . 21 (6): 1009–20. doi :10.1007/s00198-009-1043-6 . PMC 2946578 PMID 19727905 . Bodian DL, Chan TF, Poon A, et al. (2009). "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships" . Hum. Mol. Genet . 18 (3): 463–71. doi :10.1093/hmg/ddn374 . PMC 2638801 PMID 18996919 . Morello R, Tonachini L, Monticone M, et al. (1999). "cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein". Matrix Biol . 18 (3): 319–24. doi :10.1016/S0945-053X(99)00002-5 . PMID 10429950 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. doi :10.1073/pnas.242603899 . PMC 139241 PMID 12477932 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Castagnola P, Gennari M, Morello R, et al. (1997). "Cartilage associated protein (CASP) is a novel developmentally regulated chick embryo protein". J. Cell Sci . 110. ( Pt 12): 1351–9. PMID 9217321 . Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape" . Cell . 138 (2): 389–403. doi :10.1016/j.cell.2009.04.042 . PMC 2716422 PMID 19615732 . Van Dijk FS, Nesbitt IM, Nikkels PG, et al. (2009). "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. doi :10.1038/ejhg.2009.75 . PMC 2987020 PMID 19550437 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .
