DefinitionThis section has been translated automatically.
The IRF4 gene (IRF4 stands for "Interferon Regulatory Factor 4") is a protein-coding gene located on chromosome 6p25.3. Alternatively spliced transcript variants have been found for this gene.
General informationThis section has been translated automatically.
The protein encoded by the IRF4 gene belongs to the IRF(interferon regulatory factor) family of transcription factors, which are characterized by a unique "tryptophan pentad repeat DNA binding domain". The IRFs play an important role in the regulation of interferons in response to viral infection and in the regulation of interferon-inducible genes. This family member is lymphocyte-specific and negatively regulates Toll-like receptor (TLR) signaling, which is central to the activation of the innate and adaptive immune system.
The protein encoded by the IRF4 gene is a transcriptional activator. It binds to the interferon-stimulated response element(ISRE) of the MHC class I promoter. Binds together with PU.1 to the enhancer of the immunoglobulin lambda light chain. Probably plays a role in ISRE-driven signal transduction mechanisms specific for lymphoid cells. The IRF4 protein is involved in CD8(+) differentiation of dendritic cells.
Clinical pictureThis section has been translated automatically.
A chromosomal translocation involving the IRF4 gene and the IgH locus may be a cause of multiple myeloma .
Diseases or traits associated with IRF4 include.
- Skin/hair/eye pigmentation (Praetorius C et al. 2013)
- and
- Whipple's disease.
Related pathways includeCytokine Signaling in Immune system.
LiteratureThis section has been translated automatically.
- Praetorius C et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway. Cell 155:1022-1033.
