The NEK8 gene encodes a ciliary enzyme belonging to the serine/threonine protein kinase family. This kinase is believed to be required for ciliary biogenesis and renal tubular integrity. It is also known to be involved in the Hippo signaling pathway.
The gene is associated with Renal-Hepatic-Pancreatic Dysplasia 2 (RHPD2), an often fatal disorder characterized by cystic/dysplastic abnormalities in the kidney, liver and pancreas along with cardiovascular, pulmonary and skeletal defects. The gene is also linked to Nephronophthisis 9 (NPHP9), an autosomal recessive renal disease resulting in cysts and eventually, renal failure.