| GENE NAME | MYSM1 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000162601 |
| UNIPROT ACCESSION NUMBER | Q5VVJ2 |
| GO MOLECULAR FUNCTION | ['DNA binding', 'histone binding', 'isopeptidase activity', 'metal-dependent deubiquitinase activity', 'thiol-dependent deubiquitinase', 'protein binding', 'transcription coactivator activity', 'metal ion binding'] |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-392499; R-HSA-5688426; R-HSA-5689901; R-HSA-597592 |
| 2 combinations linked to MYSM1 | OLI1714; OLI1713 |
| 1 variant linked to MYSM1 | MYSM1:p.Pro760Leu |
| 1 disease linked to MYSM1 | Common variable immunodeficiency |