CEP78 Antibody

1. Our results provide evidence that CEP78 is a novel disease-causing gene for Usher syndrome, demonstrating an additional link between ciliopathy and Usher protein network in photoreceptor cells and inner ear hair cells. PMID: 27627988
2. we identify Cep78 as a new player that regulates centrosome homeostasis by inhibiting the final step of the enzymatic reaction catalyzed by EDD-DYRK2-DDB1(Vpr)(BP). PMID: 28242748
3. the interaction between Cep78 and the N-terminal catalytic domain of Plk4 is a new and important element in the centrosome overduplication process. PMID: 27246242
4. data strongly suggest that mutations in CEP78 cause a previously undescribed clinical entity of a ciliary nature characterized by blindness and deafness but clearly distinct from Usher syndrome, a condition for which visual impairment is due to retinitis pigmentosa PMID: 27588451
5. truncating mutations in CEP78 result in a phenotype involving both the visual and auditory systems but different from typical Usher syndrome PMID: 27588452
6. CEP78 functions as a tumor suppressor in colorectal cancer and low CEP78 expression leads to shorter survival in colorectal cancer patients. PMID: 27357513

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HGNC: 25740

OMIM: 617110

KEGG: hsa:84131

STRING: 9606.ENSP00000365782

UniGene: Hs.187621