| ncRNA Symbol: | USH1C |
| Full Name: | USH1 protein network component harmonin |
| Category: | mRNA |
| Synonyms: | AIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst |
| Chromosome: | chr11 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 17493895 | End Site(bp): | 17544416 | |
| 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, Mar 2009] |
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