EIF3F Chromosome 11
Eukaryotic translation initiation factor 3 subunit F
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What This Gene Does
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]
Gene Info
Gene Group
"JAMM/MPN+ metallopeptidase family|Eukaryotic translation initiation factor 3"
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000175390
Associated Conditions (7)
Intellectual developmental disorder
autosomal recessive 67
Inborn genetic diseases
Intellectual disability
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder
EIF3F-related disorder
Key Variants
RS1185010700
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 67, Intellectual developmental disorder
Health Risk
RS2133674310
Pathogenic
Intellectual developmental disorder, autosomal recessive 67, Intellectual developmental disorder
Health Risk
RS141976414
Pathogenic/Likely pathogenic
Intellectual developmental disorder, autosomal recessive 67, Inborn genetic diseases
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1185010700 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 67, Intellectual developmental disorder |
| RS2133674310 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 67, Intellectual developmental disorder |
| RS141976414 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder, autosomal recessive 67, Inborn genetic diseases |