연골 관련 단백질은 인간에게 CRTAP 유전자에 의해 암호화된 단백질이다.[5][6]
함수
이 유전자에 의해 암호화된 단백질은 닭과 생쥐 CRTAP 유전자와 유사하다.암호화된 단백질은 특정 세포 자극에 반응하여 시토신/ARNO 계열의 적어도 한 멤버의 활동에 영향을 줄 수 있는 비계 단백질이다.[5]
임상적 유의성
CRTAP 유전자의 돌연변이는 뼈 파괴한도와 낮은 뼈 덩어리로 특징지어지는 결합조직 장애인 7형과 IIB형 골생성 불완전성과 관련이 있다.[7][8]
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000170275 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000032431 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "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. S2CID 24887051.
- ^ 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. PMC 7509984. 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.
추가 읽기
- 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. S2CID 8123837.
- 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. Bibcode:2002PNAS...9916899M. 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) (12): 1351–9. doi:10.1242/jcs.110.12.1351. 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.
이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.
