RFX5

The protein encoded by RFX5 is regulatory factor X5, a transcription factor belonging to the RFX family. It plays a critical role in MHC class II gene expression by binding to X-box motifs in their promoters, forming a complex with RFXAP and RFXANK to activate transcription.
Mutations in RFX5 cause bare lymphocyte syndrome type II, an immunodeficiency disorder characterized by defective MHC class II expression. Its function intersects with immune signaling pathways, particularly those regulating antigen presentation. Limited drug development targets RFX5 directly, but research focuses on its role in immune modulation and potential therapeutic interventions for immunological diseases.