NEK8 Antibody

1. NEK8 plays a critical role in replication fork stability through its regulation of the DNA repair and replication fork protection protein RAD51. PMID: 27892797
2. The mutations: c.2069_2070insC variant (p.Ter693LeufsTer86), and a c.1043C>T variant (p.Thr348Met) in RCC1 domain of NEK8 in two brothers with cardiac, renal, and hepatic anomalies PMID: 26697755
3. our study demonstrates that NEK8 human mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway PMID: 26967905
4. NEK8 may be a new target gene of HIFs; pVHL can down-regulate NEK8 via HIFs to maintain the primary cilia structure in human renal cancer cells PMID: 25451921
5. NEK8 is essential for organ development and that the complete loss of NEK8 perturbs multiple signalling pathways resulting in a severe early embryonic phenotype. PMID: 23418306
6. Mutation in NEK8 is associated with renal ciliopathies PMID: 23973373
7. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3. PMID: 23793029
8. NPHP9 promotes signalling through the transcriptional co-activator TAZ. PMID: 23026745
9. study finds that induction of ciliogenesis upon cell cycle exit is accompanied by both activation and proteasomal degradation of Nek8, and that activation is dependent upon phosphorylation within the catalytic domain PMID: 22106379
10. Observational study of gene-disease association. (HuGE Navigator) PMID: 21068128
11. Data demonstrate for the first time that Nek8 is a novel tumor associated gene, and shares considerable sequence homology with the Nek family of protein kinases and may be involved in G(2)/M progression. PMID: 15019993
12. mutations cause nephronophthisis; mutant forms show defects in ciliary localization PMID: 18199800
13. characterization of the proteome in mice that have a double point mutation in the related gene. PMID: 15872312

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HGNC: 13387

OMIM: 609799

KEGG: hsa:284086

STRING: 9606.ENSP00000268766

UniGene: Hs.448468