IRF4


Interferon regulatory factor 4 also known as MUM1 is a protein that in humans is encoded by the IRF4 gene, located at 6p25-p23.
The MUM1 symbol is polysemous; although it is an older synonym for IRF4, it is also the current HGNC official symbol for melanoma associated antigen 1.

Clinical significance

In melanocytic cells the IRF4 gene may be regulated by MITF. IRF4 is a transcription factor that has been implicated in acute leukemia. This gene is strongly associated with pigmentation: sensitivity of skin to sun exposure, freckles, blue eyes, and brown hair color. A variant has been implicated in greying of hair.
The World Health Organization provisionally defined large B-cell lymphoma with IRF4 rearrangement as a rare indolent large B-cell lymphoma of children and adolescents. This indolent lymphoma mimics, and must be distinguished from, pediatric-type follicular lymphoma.
The hallmark of large B-cell lymphoma with IRF4 rearrangement is the overexpression of the IRF4 gene by the disease's malignant cells. This overexpression is forced by the acquisition in these cells of a translocation of IRF4 from its site on the short arm of chromosome 6 at position 25.3 to a site near the IGH@ immunoglobulin heavy locus on the long arm of chromosome 14 at position 32.33

Interactions

IRF4 has been shown to interact with: