Regulatory factor X associated ankyrin containing protein (RFXANK)

Regulatory factor X associated ankyrin containing protein (RFXANK) is a protein encoded by the RFXANK gene, acting as a critical subunit of the regulatory factor X (RFX) complex. This complex regulates transcription of major histocompatibility complex (MHC) class II genes, which are essential for antigen presentation and proper immune function. RFXANK contains ankyrin repeats, mediating protein-protein interactions within the complex and enabling DNA binding to MHC class II gene promoters. Mutations in RFXANK are the most common genetic cause of bare lymphocyte syndrome type II (BLS II), a severe combined immunodeficiency characterized by a near-total lack of immune response to pathogens. RFXANK is essential for the transcription of MHC class II proteins in antigen-presenting cells and may play auxiliary roles in MHC class I regulation and natural killer cell-mediated immunity. There are no known drugs directly targeting RFXANK, nor are there established safety or biomarker indications for therapy.

Other names

ANKRA1BLSDNA-binding protein RFXANKF14150_1MGC138628RFX-BRFX-Bdelta4ankyrin repeat-containing regulatory factor X-associated proteinregulatory factor X subunit Bankyrin repeat family A protein 1