Eukaryotic translation initiation factor 3 subunit F

Summary

EIF3F encodes eukaryotic translation initiation factor 3 subunit F (eIF3f), a component of the eIF-3 complex required for multiple steps in protein synthesis initiation (UniProt: O00303). The protein associates with the 40S ribosome to facilitate recruitment of initiation factors and formation of the 43S pre-initiation complex, while also promoting mRNA scanning and ribosomal recycling. Additionally, EIF3F deubiquitinates activated NOTCH1 to promote Notch signaling.

EIF3F functions in the translation initiation pathway with selective roles in translating mRNAs involved in cell proliferation, cycling, differentiation, and apoptosis. The protein is associated with intellectual developmental disorder, autosomal recessive 67 (MRT67), characterized by significantly below average intellectual functioning with impairments in adaptive behavior. Some MRT67 patients present with seizures and sensorineural hearing loss.

EIF3F is classified as SFARI Category 2 (UniProt: O00303; SFARI Cat 2), indicating a high-confidence genetic association with autism spectrum disorder based on available evidence in this dataset.