Aliases for NPHP4 Gene
External Ids for NPHP4 Gene
Previous GeneCards Identifiers for NPHP4 Gene
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. [provided by RefSeq, Apr 2014]
GeneCards Summary for NPHP4 Gene
NPHP4 (Nephronophthisis 4) is a Protein Coding gene. Diseases associated with NPHP4 include Nephronophthisis 4 and Senior-Loken Syndrome 4. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include structural molecule activity.
UniProtKB/Swiss-Prot for NPHP4 Gene
Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.