FBXO43
Chr 8ARF-box protein 43
Also known as: EMI2, ERP1, FBX43, OOMD12, OZEMA12, SPGF64
FBXO43 encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes and is specifically required to maintain arrest of oocytes at the second meiotic metaphase until fertilization by inhibiting the anaphase-promoting complex. Biallelic mutations cause autosomal recessive oocyte/zygote/embryo maturation arrest and spermatogenic failure, affecting reproductive function rather than neurological development. This gene shows low constraint against loss-of-function variants (pLI near 0), consistent with its specialized role in gametogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FBXO43 · 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