BCAS3
Chr 17ARBCAS3 microtubule associated cell migration factor
Also known as: GAOB1, HEMARS, MAAB, PHAF2
BCAS3 encodes a protein that regulates cell polarity and directional migration through CDC42 activation and actin cytoskeleton reorganization, functions as a transcriptional coactivator for estrogen-responsive genes, and plays a regulatory role in autophagy. Mutations cause Hengel-Maroofian-Schols syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.467), indicating that complete loss of protein function is likely detrimental.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BCAS3 · 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