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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for USH1C (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10083
Official gene symbolUSH1C
Full nameUsher 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 summaryThis 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]
LocationChromosome: 11   Locus: 11p15.1-p14
Gene position17565963 - 17515442  Map Viewer
Gene orientationminus
Gene size50522 bp
Gene sequence
OMIM ID605242