GENE NAME | EYS |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000188107 |
ENTREZ ID | 346007 |
UNIPROT ACCESSION NUMBER | Q5T1H1 |
GO MOLECULAR FUNCTION | molecular_function; calcium ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
2 combinations linked to EYS | OLI450; OLI185 |
3 variants linked to EYS | EYS:c.7723+1G>A, ; EYS:c.2756G>A, p.Gly919Glu; EYS:c.6410G>A, p.Arg2137His |
1 disease linked to EYS | Retinitis pigmentosa |