Details for Gene MYSM1

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

Found any issues with the data on this page? Report this entry.