Aliases for RFX5 Gene
External Ids for RFX5 Gene
Previous GeneCards Identifiers for RFX5 Gene
A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for RFX5 Gene
RFX5 (Regulatory Factor X5) is a Protein Coding gene. Diseases associated with RFX5 include Bare Lymphocyte Syndrome, Type Ii and Severe Combined Immunodeficiency. Among its related pathways are Primary immunodeficiency and Tuberculosis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is RFX7.
UniProtKB/Swiss-Prot Summary for RFX5 Gene
Activates transcription from class II MHC promoters. Recognizes X-boxes. Mediates cooperative binding between RFX and NF-Y. RFX binds the X1 box of MHC-II promoters.