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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124) Although the role of NEK8 in cystogenesis was established earlier, when the G448V NEK8 mutation bearing jck mouse model was developed, Otto and colleagues (125) in 2008 found missense mutations in patients previously diagnosed with nephronophthisis.
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.