Details for Gene SHROOM1

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; OLI716; OLI751; OLI720
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

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