ABITRAM
Chr 9actin binding transcription modulator
Also known as: C9orf6, CG-8, FAM206A, Simiate
The protein is an actin-binding protein that regulates actin polymerization and filopodia dynamics, and increases branching of proximal dendrites in developing neurons. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), suggesting that mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been established. The inheritance pattern and clinical phenotype remain to be determined as this appears to be a newly identified disease gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ABITRAM · 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 →No open access results found
External Resources
Links to major genomics databases and tools