GENE NAME | USH1G |
CHROMOSOME | 17 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000182040 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | ['identical protein binding', 'spectrin binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
4 combinations linked to USH1G | OLI103; OLI454; OLI260; OLI1649 |
4 variants linked to USH1G | USH1G:p.Leu16Val; USH1G:c.28C>T, p.Arg10Trp; USH1G:c.1093G>A, p.Asp365Asn; USH1G:c.1162G>T, p.Glu388Ter |
2 diseases linked to USH1G | Usher syndrome type 1; Non-syndromic genetic deafness |