FBXO8
Chr 4F-box protein 8
Also known as: DC10, FBS, FBX8
The protein functions as both a component of SCF ubiquitin ligase complexes that target proteins for degradation and as a guanine nucleotide exchange factor that activates ADP-ribosylation factors involved in vesicular transport. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive brain atrophy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.53), consistent with its role in fundamental cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
109 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 66 | 0 | 66 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 17 | 7 | 0 | 24 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 1 | 1 | 3 |
| Total | 0 | 18 | 76 | 1 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FBXO8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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