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 | OLI1713; OLI1714 |
1 variant linked to MYSM1 | MYSM1:p.Pro760Leu |
1 disease linked to MYSM1 | Common variable immunodeficiency |