EIF5A Chromosome 17
Eukaryotic translation initiation factor 5A
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What This Gene Does
Enables U6 snRNA binding activity. Involved in several processes, including cellular response to virus; positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator; and tumor necrosis factor-mediated signaling pathway. Located in annulate lamellae; cytoplasm; and nucleus. Part of nuclear pore. Biomarker of colorectal cancer. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Neurodevelopmental disorder
Faundes-Banka syndrome
Key Variants
RS2143008740
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2143008747
Likely pathogenic
Health Risk
RS2143009616
Likely pathogenic
Health Risk
RS2508657357
Likely pathogenic
Health Risk
RS2508673713
Likely pathogenic
Faundes-Banka syndrome, Faundes-Banka syndrome
Health Risk
RS2508674028
Likely pathogenic
Health Risk
RS2508675963
Likely pathogenic
Health Risk
RS2143008762
Pathogenic
Faundes-Banka syndrome, Faundes-Banka syndrome
Health Risk
RS2143009611
Pathogenic
Faundes-Banka syndrome, Faundes-Banka syndrome
Health Risk
RS2143009613
Pathogenic/Likely pathogenic
Faundes-Banka syndrome, Faundes-Banka syndrome, Faundes-Banka syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143008740 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2143008747 | Health Risk | Likely pathogenic | — |
| RS2143009616 | Health Risk | Likely pathogenic | — |
| RS2508657357 | Health Risk | Likely pathogenic | — |
| RS2508673713 | Health Risk | Likely pathogenic | Faundes-Banka syndrome, Faundes-Banka syndrome |
| RS2508674028 | Health Risk | Likely pathogenic | — |
| RS2508675963 | Health Risk | Likely pathogenic | — |
| RS2143008762 | Health Risk | Pathogenic | Faundes-Banka syndrome, Faundes-Banka syndrome |
| RS2143009611 | Health Risk | Pathogenic | Faundes-Banka syndrome, Faundes-Banka syndrome |
| RS2143009613 | Health Risk | Pathogenic/Likely pathogenic | Faundes-Banka syndrome, Faundes-Banka syndrome, Faundes-Banka syndrome |