Nephronophthisis 3, Adolescent (NPHP3)

Nephrocystin-3 is a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.

The Nphp3 gene is expressed in embryonic mouse node, kidney tubules, retina, respiratory epithelium, liver, biliary tract, and neural tissues. Expression in retina and liver, as well as in kidney, was in agreement with associated tapetoretinal degeneration or hepatic fibrosis in individuals with the mutation in the human gene NPHP3.