GENE NAME | ZNF469 |
CHROMOSOME | 16 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000225614 |
UNIPROT ACCESSION NUMBER | Q96JG9 |
GO MOLECULAR FUNCTION | ['DNA binding', 'metal ion binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
3 combinations linked to ZNF469 | OLI1695; OLI1676; OLI1672 |
3 variants linked to ZNF469 | ZNF469:c.11173G>A, p.Ala3725Thr; ZNF469:c.9347C>T, p.Thr3116Ile; ZNF469:c.1475G>A, p.Arg492Gln |
2 diseases linked to ZNF469 | Non-Syndromic genetic keratoconus; Syndromic genetic keratoconus |