Regulatory Factor X-Associated Ankyrin-Containing Protein (RFXANK) is a crucial component in the regulation of major histocompatibility complex (MHC) class II gene expression. This protein is encoded by the RFXANK gene and plays a significant role in the immune system by influencing the transcription of MHC class II molecules, which are essential for the immune response.
The RFXANK gene is located on chromosome 19 in humans . The protein encoded by this gene contains three ankyrin repeats, which are known for their role in protein-protein interactions . These ankyrin repeats are essential for the formation of the regulatory factor X (RFX) complex, which is necessary for binding to the X box motif of MHC class II gene promoters .
RFXANK, along with regulatory factor X-associated protein (RFXAP) and regulatory factor-5 (RFX5), forms the RFX complex . This complex binds to the X box motif of certain MHC class II gene promoters and activates their transcription . The activation of these promoters is crucial for the expression of MHC class II molecules, which present antigens to T cells and initiate an immune response .
Once the RFX complex binds to the promoter, it associates with the non-DNA-binding factor MHC class II transactivator (CIITA), which controls the cell type specificity and inducibility of MHC class II gene expression . This interaction ensures that MHC class II molecules are expressed in the appropriate cells and under the right conditions.
Mutations in the RFXANK gene have been linked to bare lymphocyte syndrome type II, complementation group B . This rare genetic disorder is characterized by a lack of MHC class II expression, leading to severe immunodeficiency. Patients with this condition are highly susceptible to infections due to the impaired ability of their immune system to present antigens and activate T cells .
Human recombinant RFXANK is produced using recombinant DNA technology, which involves inserting the RFXANK gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein can be used for various research purposes, including studying the function of RFXANK in the immune system and developing potential therapies for conditions related to MHC class II deficiency.