Also found in: Acronyms.
RFX5A gene on chromosome 1q21 that belongs to the regulatory factor X gene family, which encode transcription factors that contain a highly conserved winged-helix DNA-binding domain. RFX5 is structurally related to other regulatory factor (RF) family members—RFX1, RFX2, RFX3 and RFX4—and is a transcriptional activator that can bind DNA to the X-boxes of MHC class II-genes.
RFX5 mutation results in a loss of RFX binding in complementation group C, leading to a lack of MHC-II expression and MHC-II deficiency (bare lymphocyte syndrome), a severe immunodeficiency syndrome.
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