FBH1
Chr 10ADF-box DNA helicase 1
Also known as: FBXO18, Fbx18, hFBH1
This protein functions as a 3'-5' DNA helicase that maintains genome stability by regulating DNA replication fork processing and homologous recombination, and also serves as a component of an E3 ubiquitin ligase complex. Mutations cause autosomal dominant early-onset epilepsy with or without developmental delay, neurodevelopmental disorder with speech impairment and dysmorphic features, or hypocalciuric hypercalcemia. The gene is highly constrained against loss-of-function variants (LOEUF 0.479), indicating that such variants are likely pathogenic.
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
231 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 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 143 | 12 | 0 | 155 |
Likely Benign | 0 | 8 | 0 | 0 | 8 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 151 | 39 | 0 | 190 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FBH1 · 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