{"symbol":"USH1C","synonyms":["AIE-75","DFNB18A","PDZ73","NY-CO-37","PDZ-73/NY-CO-38","USH1CPST","DFNB18","NY-CO-38","PDZ-73","PDZ-45","PDZD7C"],"name":"Usher syndrome 1C (autosomal recessive, severe)","description":"This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","ncbiEntrezGeneId":10083,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10083","proteins":[{"symbol":"USH1C_HUMAN","href":"/api/1.0/protein/USH1C_HUMAN"}],"hgncRootFamilies":[]}