| GENE NAME | PAX3 |
| CHROMOSOME | 2 |
| ENSEMBL ID | ENSG00000135903 |
| ENTREZ ID | 5077 |
| UNIPROT ACCESSION NUMBER | P23760 |
| GO MOLECULAR FUNCTION | protein binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; sequence-specific double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; sequence-specific DNA binding; DNA-binding transcription factor activity; DNA binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-4839726; hsa05202; R-HSA-3214847; R-HSA-3247509 |
| 3 combinations linked to PAX3 | OLI137; OLI719; OLI499 |
| 3 variants linked to PAX3 | PAX3:c.592delG, p.Ala198HisfsTer18; PAX3:c.944C>A, p.Thr315Lys; PAX3:c.382A>G, p.Met128Val |
| 4 diseases linked to PAX3 | Waardenburg syndrome; Isolated anencephaly; Congenital diaphragmatic hernia; Marfan syndrome |