| GENE NAME | PAX6 |
| CHROMOSOME | 11 |
| ENSEMBL ID | ENSG00000007372 |
| ENTREZ ID | 5080 |
| UNIPROT ACCESSION NUMBER | P26367 |
| GO MOLECULAR FUNCTION | protein kinase binding; histone acetyltransferase binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-400511; R-HSA-2980736; R-HSA-392499; hsa04550; hsa04950; R-HSA-5619507; R-HSA-400508; R-HSA-381771; R-HSA-1266738; hsa04550; hsa04950; R-HSA-5617472; R-HSA-186712; R-HSA-210745 |
| 4 combinations linked to PAX6 | OLI887; OLI885; OLI879; OLI880 |
| 3 variants linked to PAX6 | PAX6:c.1165C>A, p.Pro389Thr; PAX6:c.1166C>A, p.Pro389Gln; PAX6:c.556_564delCCTACGCAA, p.Pro186_Gln188del |
| 1 disease linked to PAX6 | Kallmann syndrome |