Details for Gene USH1C

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 OLI263; OLI104; OLI1037
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

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