GENE NAME | SHROOM1 |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000164403 |
ENTREZ ID | 134549 |
UNIPROT ACCESSION NUMBER | Q2M3G4 |
GO MOLECULAR FUNCTION | actin filament binding; myosin II binding; actin binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
4 combinations linked to SHROOM1 | OLI714; OLI720; OLI751; OLI716 |
4 variants linked to SHROOM1 | SHROOM1:c.1060G>A, p.Val354Met; SHROOM1:c.554G>T, p.Arg185Leu; SHROOM1:c.49A>G, p.Thr17Ala; SHROOM1:c.1439C>T, p.Pro480Leu |
1 disease linked to SHROOM1 | Isolated anencephaly |