RFX5 Proteins and Enzymes

RFX5 is the regulatory gene responsible for human MHC class II deficiency. Patients with this disease exhibit a characteristic defect in the binding of a nuclear factor, RFX, to the X box motif of MHC class II promoters. RFX5 is the 75 kDa subunit of the RFX complex which is absolutely essential and highly specific for regulating MHC class II gene expression and control of the immune response. RFX5 is a protein consisting of 616 amino acids.