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NEK8 serine/threonine kinase or NIMA-related kinase 8 is related to NIMA (never in mitosis, gene A) of Aspergillus nodulins and may play a role in cell cycle progression from G2 to M phase. NEK8 is part of a complex of ciliary proteins required for renal and cardiovascular development. NEK8 interacts with polycystin signal transduction pathways and may control the targeting of these ciliary proteins. Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia.Defects in NEK8 are the cause of nephronophthisis type 9 (NPHP9) [MIM:613824]. NPHP9 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
仅用于科研。不用于诊断过程。未经明确授权不得转售。