{"symbol":"NPHP4","synonyms":["SLSN4","POC10"],"name":"nephronophthisis 4","description":"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]","ncbiEntrezGeneId":261734,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/261734","proteins":[{"symbol":"NPHP4_HUMAN","href":"/api/1.0/protein/NPHP4_HUMAN"}],"hgncRootFamilies":[]}