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, complementation group c and immunodeficiency by defective expression of hla class 2. Among its related pathways are Primary immunodeficiency and Tuberculosis. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is RFX3.
UniProtKB/Swiss-Prot 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.