Aliases for RFXAP Gene
External Ids for RFXAP Gene
Previous GeneCards Identifiers for RFXAP Gene
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for RFXAP Gene
RFXAP (Regulatory Factor X Associated Protein) is a Protein Coding gene. Diseases associated with RFXAP include Bare Lymphocyte Syndrome, Type Ii and Severe Combined Immunodeficiency. Among its related pathways are Tuberculosis and Primary immunodeficiency. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity.
UniProtKB/Swiss-Prot Summary for RFXAP Gene
Part of the RFX complex that binds to the X-box of MHC II promoters.