GENE NAME | SHROOM3 |
CHROMOSOME | 4 |
ENSEMBL ID | ENSG00000138771 |
ENTREZ ID | 57619 |
UNIPROT ACCESSION NUMBER | Q8TF72 |
GO MOLECULAR FUNCTION | actin filament binding; actin binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to SHROOM3 | OLI729; OLI699 |
2 variants linked to SHROOM3 | SHROOM3:c.4519G>A, p.Glu1507Lys; SHROOM3:c.619C>T, p.His207Tyr |
1 disease linked to SHROOM3 | Isolated anencephaly |