eukaryotic translation initiation factor 3 subunit F
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Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalintellectual developmental disorder, autosomal recessive 67
hereditary disease
syndromic intellectual disability
neurodegenerative disease
Intellectual disability
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
neurodevelopmental disorder
autosomal recessive non-syndromic intellectual disability
Alzheimer disease
retinitis pigmentosa
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Eukaryotic translation initiation factor 3 subunit F
Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773)
EIF3F · O00303
Mean pLDDT
73.9/ 100
Confident
357 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
