FEM1C
Chr 5fem-1 homolog C
Also known as: EUROIMAGE686608, EUROIMAGE783647, FEM1A
The protein serves as a substrate-recognition component of a Cul2-RING E3 ubiquitin ligase complex that targets proteins with specific C-terminal degrons for ubiquitination and degradation. Mutations in FEM1C cause autosomal recessive intellectual disability with seizures and hypotonia. This gene shows significant constraint against loss-of-function variants (LOEUF 0.479), suggesting that complete protein loss is 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FEM1C · 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