IRF5 gene
The IRF5 gene produces a transcription factor that regulates the immune system's response to viral infections and inflammation.
Normal Function
The protein produced from the IRF5 gene, called interferon regulatory factor 5 (IRF5), acts as a transcription factor, attaching to specific regions of DNA to control the activity of certain genes. When a virus is recognized in the cell, the IRF5 gene is activated, leading to the production of the IRF5 protein.
The protein binds to DNA regions that regulate genes producing interferons and other cytokines. These proteins help fight infection by promoting inflammation and regulating immune system cells. Interferons specifically control genes that block viral replication and stimulate natural killer cells.
Health Conditions Related to Genetic Changes
Systemic lupus erythematosus
Studies have associated normal variations in the IRF5 gene with an increased risk of systemic lupus erythematosus, a chronic autoimmune disorder that causes inflammation in connective tissues. While some evidence suggests certain variations are associated with increased gene activity and elevated cytokines, the exact role these effects play in the development of the condition is unknown. Researchers believe a combination of genetic and environmental factors contributes to the disease.
Systemic scleroderma
Several normal variations in the IRF5 gene have been associated with an increased risk of developing systemic scleroderma, an autoimmune disorder characterized by the buildup of scar tissue (fibrosis) in the skin and internal organs. It is currently unknown how these gene variations contribute to the risk, though researchers believe both genetic and environmental factors are involved.
Ulcerative colitis
MedlinePlus Genetics provides information about Ulcerative colitis.
Other Names for This Gene
- IRF-5
- IRF5_HUMAN
- SLEB10
