호모 사피엔스 종의 단백질 코드 유전자
78kDa의 중심체 단백질 은 CEP78 [5] [6] 단백질 이다.
임상 이 유전자의 돌연변이는 청력 [7]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000148019 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000041491 - 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 .^ "Entrez Gene: centrosomal protein 78kDa" .^ Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature . 426 (6966): 570–4. Bibcode :2003Natur.426..570A . doi :10.1038/nature02166 . PMID 14654843 . S2CID 4427303 . ^ 아스카리G, 필만F, 파리넬리P, 로셀T, 람브렉츠N, 분델리히KA, 바그너M, 니코풀로스K, 마르텐스P, 발리코바I, 데리케L, 홀타펠스G, 크리스코O, 바네트1 C, Leroy BP, De Bare E, Coppieters F(2020) CEP78의 첫 번째 미센스 변이체의 기능적 특성, 원추형 간디스트로피, 청력 손실 및 남성 생식력 감소와 관련된 창시자 대립 유전자. 험 무타트
외부 링크 추가 정보 Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature . 426 (6966): 570–4. Bibcode :2003Natur.426..570A . doi :10.1038/nature02166 . PMID 14654843 . S2CID 4427303 . Golsteyn RM, Mundt KE, Fry AM, Nigg EA (1995). "Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function" . J. Cell Biol . 129 (6): 1617–28. doi :10.1083/jcb.129.6.1617 . PMC 2291169 PMID 7790358 . Casenghi M, Meraldi P, Weinhart U, et al. (2003). "Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation" . Dev. Cell . 5 (1): 113–25. doi :10.1016/S1534-5807(03)00193-X PMID 12852856 . Mayor T, Stierhof YD, Tanaka K, et al. (2000). "The Centrosomal Protein C-Nap1 Is Required for Cell Cycle–Regulated Centrosome Cohesion" . J. Cell Biol . 151 (4): 837–46. doi :10.1083/jcb.151.4.837 . PMC 2169446 PMID 11076968 . Petretti C, Savoian M, Montembault E, et al. (2006). "The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation" . EMBO Rep . 7 (4): 418–24. doi :10.1038/sj.embor.7400639 . PMC 1456919 PMID 16462731 . 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 . Takahashi M, Yamagiwa A, Nishimura T, et al. (2002). "Centrosomal Proteins CG-NAP and Kendrin Provide Microtubule Nucleation Sites by Anchoring γ-Tubulin Ring Complex" . Mol. Biol. Cell . 13 (9): 3235–45. doi :10.1091/mbc.E02-02-0112 . PMC 124155 PMID 12221128 .