Foxp3 Gene

Subgroup belonging to the forkhead box genes. FOX genes characterize a special, highly conserved DNA section (forkhead box), which can be detected in many genes. FOXP3 represents a determinant, highly conserved transcription factor (431 amino acids) for the regulatory T cell line (Treg cells).

The coding gene "FOXP3 gene" is X-linked, located in the gene locus Xp11.23 in humans. The transcription factor FOXP3 belongs to the forkhead/winged-helix family of transcriptional regulators and has an 86 % homology to the FOXP3 protein in the mouse. As a transcription factor, FOXP3 is of central importance in the development of regulatory T cells and is expressed by CD4+/CD25+ regulatory T cells, which play a central role in the maintenance of immunohomeostasis.

The influence of FOXP3 in immune tolerance is evident in male individuals whose X chromosome is mutated in the FOXP3 gene. These patients suffer from severe multiple autoimmune diseases. They are grouped under the name IPEX(Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome) and often lead to death in infancy.

From versch. FOXp3 is also expressed by various tumor cells, e.g. melanoma cells. Furthermore, Epstein-Barr virus transformed B cells express FOXP3. FOXP3 is a functional repressor of IL-6 in tumor cells and thus confers suppressive properties to tumor cells. It also functions as a repressor of the oncogene Her-2 (human epidermal growth factor receptor-2).

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