USH1C, Official Symbol USH1Cprovided by HGNC Official Full Name USH1 protein network component harmoninprovided by HGNC Primary source HGNC:HGNC:12597 See related Ensembl:ENSG00000006611 MIM:605242; AllianceGenome:HGNC:12597 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38 Summary 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] Expression Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues See more Orthologs mouse all