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Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
Gene Name: | Usher syndrome 1C (autosomal recessive, severe) |
Synonyms: | USH1C, AIE-75, Antigen NY-CO-38/NY-CO-37, AIE75, DFNB18, DFNB18A, Harmonin, PDZ-45, NY-CO-38, Usher syndrome type-1C protein, Ush1cpst, NY-CO-37, PDZ-73, PDZ73, Protein PDZ-73 |
Target Sequences: | NM_005709 NP_005700.2 Q9Y6N9 |
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