Gene:
nephronophthisis 3 (adolescent)
Gene ID:
192596
Symbol:
NPHP3
Species:
1000
Description:
This gene encodes 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 biological nature has not been determined.