MPEG1 Chromosome 11
Macrophage expressed 1
Upload your DNA to see your personal genotypes for variants in MPEG1.
What This Gene Does
Enables wide pore channel activity. Involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Located in cytoplasmic vesicle. Is active in phagolysosome membrane. Implicated in primary immunodeficiency disease. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Immunodeficiency 77
Primary ciliary dyskinesia 3
Key Variants
RS200420254
Conflicting classifications of pathogenicity
Immunodeficiency 77, Immunodeficiency 77
Health Risk
RS374616457
Conflicting classifications of pathogenicity
Health Risk
RS2496452431
Pathogenic
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
Health Risk
RS761971524
Pathogenic
Immunodeficiency 77, Immunodeficiency 77
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200420254 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 77, Immunodeficiency 77 |
| RS374616457 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2496452431 | Health Risk | Pathogenic | Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS761971524 | Health Risk | Pathogenic | Immunodeficiency 77, Immunodeficiency 77 |