Gene Symbol | USH1C |
Entrez Gene ID | 10083 |
Full Name | USH1 protein network component harmonin |
Synonyms | AIE-75,DFNB18,DFNB18A,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,PDZD7C,ush1cpst |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive 18A, 602092 (3) |