EIF3C

Chr 16

eukaryotic translation initiation factor 3 subunit C

Also known as: EIF3S8, eIF3-p110

NCBI Gene: 8663 ENSG00000184110 UniProt: Q99613 OMIM: 603916

EIF3C encodes a component of the eukaryotic translation initiation factor 3 complex, which is essential for protein synthesis initiation by facilitating ribosome assembly and mRNA recruitment. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and intellectual disability. This gene shows low constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables ribosome binding activity. Contributes to translation initiation factor activity. Involved in positive regulation of translation and translational initiation. Located in cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

Mechanism· predicted