Nephrocystin-3 는 인간의 NPHP3 [5] [6] [7] 단백질 이다.
이 유전자는 코일 코일(CC) 도메인, 튜불린-티로신 리가아제(TTL) 도메인 및 테트라트리코펩타이드 반복(TPR) 도메인을 포함한 단백질을 코드한다. 암호화된 단백질은 네프로시스틴과 상호작용하며 신관 발달과 기능에서 기능할 수 있다. 이 유전자의 돌연변이는 네프로노피시스 타입 3과 관련이 있다. 여러 스플라이스 변형이 설명되었지만 전체 길이의 [7]
신장-간-판막 이형성증 과의 연관성이 [8]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000113971 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000032558 - 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 .^ Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nat Genet . 34 (4): 455–9. doi :10.1038/ng1216 . PMID 12872122 . S2CID 22062277 . ^ Leipe DD, Koonin EV, Aravind L (Sep 2004). "STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer" . J Mol Biol . 343 (1): 1–28. doi :10.1016/j.jmb.2004.08.023 . PMID 15381417 . ^ a b "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)" .^ Bergmann C, Fliegauf M, Brüchle NO, et al. (April 2008). "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia" . Am. J. Hum. Genet . 82 (4): 959–970. doi :10.1016/j.ajhg.2008.02.017 . PMC 2427297 PMID 18371931 . 추가 정보 Omran H, Fernandez C, Jung M, et al. (2000). "Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree" . Am. J. Hum. Genet . 66 (1): 118–27. doi :10.1086/302705 . PMC 1360127 PMID 10631142 . Omran H, Häffner K, Burth S, et al. (2001). "Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice" . J. Am. Soc. Nephrol . 12 (1): 107–13. doi :10.1681/ASN.V121107 PMID 11134256 . Omran H, Sasmaz G, Häffner K, et al. (2002). "Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene" . J. Am. Soc. Nephrol . 13 (1): 75–9. doi :10.1681/ASN.V13175 PMID 11752023 . Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method" . DNA Res . 9 (2): 47–57. doi :10.1093/dnares/9.2.47 PMID 12056414 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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 . 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 . 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 .
