FBXO10
Chr 9F-box protein 10
Also known as: FBX10, PRMT11
FBXO10 encodes a substrate-recognition component of SCF E3 ubiquitin ligase complexes that mediates the ubiquitination and degradation of BCL2, RAGE, and HGAL proteins, thereby regulating apoptosis and B-cell receptor signaling. Mutations cause autosomal recessive intellectual disability with variable features including microcephaly, seizures, and developmental delays. The gene is highly constrained against loss-of-function variants (LOEUF 0.648), suggesting intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FBXO10 · 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