NEK8

NEK8

A gene on chromosome 17q11.1 that encodes a NEK serine/threonine protein kinase required for renal tubule integrity, possibly by regulating cytoskeletal structure in epithelial cells; it may regulate ciliary biogenesis through targeting of proteins to cilia. NEK8 is highly expressed in the thyroid, adrenal gland and skin. It is also the less preferred symbol for NEK9 (see there).
 
Molecular pathology
Defects in NEK8 cause nephronophthisis type 9.
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References in periodicals archive ?
(123) In Nek8 and Pkd1 mutated jck murine models, coexistence of mutations in both genes was found to be directly related to an increase in emerging cysts and this is suggestive of a common mechanism leading to renal cystic pathogenesis.
Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.
Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures.