Nephronophthisis 4 (NPHP4)

Nephrocystin-4 is a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined. NPHP4 gene encodes a 1,250-amino acid protein that shares 86% identity with the mouse ortholog.In an erratum, they indicated that an error in sequence analysis had led to the masking of a methionine codon located 176 amino acids upstream of the previously reported initiation codon. Correction of this error indicated that NPHP4 contains 1,426 amino acids.