This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants.
Alias Symbols: NPHP4, KIAA0673,
Protein Interaction Partner: UBC, CEP164, DDB1, LATS1, NPHP1, NPHP4, RPGRIP1,