Entrez gene ID | | 10083 |
Official gene symbol | | USH1C |
Full name | | Usher syndrome 1C (autosomal recessive, severe) |
Aliases | | ,AIE-75,DFNB18,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,ush1cpst, |
Gene 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] |
Location | | Chromosome: 11 Locus: 11p15.1-p14 |
Gene position | | 17565963 - 17515442 Map Viewer |
Gene orientation | | minus |
Gene size | | 50522 bp |
Gene sequence |
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OMIM ID | | 605242 |
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