GENE NAME | OTOF |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000115155 |
UNIPROT ACCESSION NUMBER | Q9HC10 |
GO MOLECULAR FUNCTION | ['molecular_function', 'AP-2 adaptor complex binding', 'calcium ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-9609507; R-HSA-9609523 |
1 combination linked to OTOF | OLI1318 |
1 variant linked to OTOF | OTOF:c.5098G>C, p.Glu1700Gln |
1 disease linked to OTOF | Rare genetic deafness |