GENE NAME | USH1C |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000006611 |
ENTREZ ID | 10083 |
UNIPROT ACCESSION NUMBER | Q9Y6N9 |
GO MOLECULAR FUNCTION | actin filament binding; protein binding; spectrin binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
3 combinations linked to USH1C | OLI104; OLI1037; OLI263 |
3 variants linked to USH1C | USH1C:c.238_239dupC, p.Arg80fsTer69; USH1C:c.2437T>G, p.Tyr813Asp; USH1C:c.1823C>G, p.Pro608Arg |
3 diseases linked to USH1C | Usher syndrome type 1; Meniere Disease; Atypical hemolytic uremic syndrome |