CEP78 explained

Centrosomal protein of 78 kDa, also known as Cep78, is a protein that in humans is encoded by the CEP78 gene.^{[1] [2]}

Clinical

Mutations in this gene have been associated with cone-rod dystrophy with hearing loss.^[3]

Further reading

• Andersen JS, Wilkinson CJ, Mayor T . Proteomic characterization of the human centrosome by protein correlation profiling. . Nature . 426 . 6966 . 570–4 . 2003 . 14654843 . 10.1038/nature02166 . 2003Natur.426..570A . 4427303 . etal.
• Golsteyn RM, Mundt KE, Fry AM, Nigg EA . 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 . 1995 . 7790358 . 2291169 . 10.1083/jcb.129.6.1617 .
• Casenghi M, Meraldi P, Weinhart U . Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation . Dev. Cell . 5 . 1 . 113–25 . 2003 . 12852856 . 10.1016/S1534-5807(03)00193-X . etal. free .
• Mayor T, Stierhof YD, Tanaka K . The Centrosomal Protein C-Nap1 Is Required for Cell Cycle–Regulated Centrosome Cohesion . J. Cell Biol. . 151 . 4 . 837–46 . 2000 . 11076968 . 2169446 . 10.1083/jcb.151.4.837 . etal.
• Petretti C, Savoian M, Montembault E . The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation . EMBO Rep. . 7 . 4 . 418–24 . 2006 . 16462731 . 1456919 . 10.1038/sj.embor.7400639 . etal.
• 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 . 1356129 . 10.1101/gr.4039406 . etal.
• Takahashi M, Yamagiwa A, Nishimura T . Centrosomal Proteins CG-NAP and Kendrin Provide Microtubule Nucleation Sites by Anchoring γ-Tubulin Ring Complex . Mol. Biol. Cell . 13 . 9 . 3235–45 . 2002 . 12221128 . 124155 . 10.1091/mbc.E02-02-0112 . etal.

Notes and References

1. Web site: Entrez Gene: centrosomal protein 78kDa.
2. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M . Proteomic characterization of the human centrosome by protein correlation profiling . Nature . 426 . 6966 . 570–4 . December 2003 . 14654843 . 10.1038/nature02166 . 2003Natur.426..570A . 4427303 .
3. Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T1, De Jaegere S1, Guillemyn B1, De Rycke R13,14, De Bleecker J1, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility. Hum Mutat