3v30

Structural highlights

Disease

RFXK_HUMAN Immunodeficiency by defective expression of HLA class 2. The disease is caused by mutations affecting the gene represented in this entry.^{[1] [2] [3]}

Function

RFXK_HUMAN Activates transcription from class II MHC promoters. Activation requires the activity of the MHC class II transactivator (MHC2TA). May regulate other genes in the cell. RFX binds the X1 box of MHC-II promoters. Isoform RFX-B-delta5 is not involved in the positive regulation of MHC class II genes.

References

1. ↑ Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nat Genet. 1998 Nov;20(3):273-7. PMID:9806546 doi:http://dx.doi.org/10.1038/3081
2. ↑ Nagarajan UM, Louis-Plence P, DeSandro A, Nilsen R, Bushey A, Boss JM. RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity. 1999 Feb;10(2):153-62. PMID:10072068
3. ↑ Nagarajan UM, Peijnenburg A, Gobin SJ, Boss JM, van den elsen PJ. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. J Immunol. 2000 Apr 1;164(7):3666-74. PMID:10725724