FBXO22
Chr 15ARF-box protein 22
Also known as: FBX22, FISTC1, TYMAS
The protein functions as a substrate-recognition component of SCF-type E3 ubiquitin ligase complexes, promoting proteasomal degradation of key sarcomeric proteins including alpha-actinin and filamin-C, and regulating histone methylation through control of histone demethylase levels. Mutations cause Tayoun-Maawali syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variation (pLI 0.98, LOEUF 0.30), indicating that biallelic variants are likely to have significant clinical impact.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FBXO22 · 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