NPHP4 Antibody Blocking Peptide

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.