{"symbol":"IQCB1","synonyms":["NPHP5","SLSN5","PIQ"],"name":"IQ motif containing B1","description":"This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]","ncbiEntrezGeneId":9657,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9657","proteins":[{"symbol":"IQCB1_HUMAN","href":"/api/1.0/protein/IQCB1_HUMAN"}],"hgncRootFamilies":[]}