FEM1C

Chr 5

fem-1 homolog C

Also known as: EUROIMAGE686608, EUROIMAGE783647, FEM1A

NCBI Gene: 56929 ENSG00000145780 OMIM: 608767

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Located in cytosol and nucleoplasm. Part of Cul2-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.48

Clinical Summary— FEM1C

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Gene-Disease Validity (ClinGen)

neurodevelopmental disorder · ADLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.63) — some intolerance to loss-of-function variants.

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