EIF3F

Chr 11

eukaryotic translation initiation factor 3 subunit F

Also known as: EIF3S5, MRT67, eIF3-p47

NCBI Gene: 8665 ENSG00000175390 UniProt: O00303

The EIF3F protein is a component of the eukaryotic translation initiation factor 3 complex, which is required for protein synthesis initiation by facilitating ribosome assembly and mRNA recruitment. Mutations cause autosomal recessive intellectual developmental disorder 67. This gene is highly constrained against loss-of-function mutations in the general population, indicating that such variants are likely to be pathogenic when present in the homozygous or compound heterozygous state.

ResearchSummary from RefSeq, OMIM, UniProt

Enables identical protein binding activity and metal-dependent deubiquitinase activity. Contributes to translation initiation factor activity. Involved in IRES-dependent viral translational initiation and translational initiation. Located in membrane. Part of eukaryotic translation initiation factor 3 complex. Implicated in autosomal recessive intellectual developmental disorder 67. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 67

Clinical highlights

Gene-disease validity (ClinGen)

syndromic intellectual disability · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429