SHROOM3
Chr 4shroom family member 3
This protein controls neuroepithelial cell shape changes during neural tube closure by promoting apical accumulation of F-actin and myosin II, and directing assembly of apicobasal microtubule arrays. Mutations cause neural tube defects including spina bifida and anencephaly, following an autosomal recessive inheritance pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.35), reflecting its critical role in early nervous system development.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SHROOM3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools