Target intelligence / Profile preview

Regulatory factor X associated protein (RFXAP)

Target
RFXAP
Molecular classification
Transcription factor, DNA-binding protein, Transcription coactivator
01

Overview

Regulatory factor X associated protein (RFXAP) is a transcription factor and coactivator within the RFX complex that binds to the X-box motif in the promoters of MHC class II genes and is required for their transcriptional activation[1][2][3][4]. The RFX complex, which includes RFXAP, RFXANK, and RFX5, enables the expression of MHC class II molecules, which are critical for antigen presentation and activation of the adaptive immune response via T cells[1][2][4]. Mutations in the RFXAP gene can cause bare lymphocyte syndrome type II, a rare but severe immunodeficiency disease[1][3][4]. While RFXAP itself is not a direct drug target, its role in immune modulation makes its pathway of interest for therapeutics aimed at altering MHC class II expression[4].

Other names
RFX associated proteinMHC2D4
02

Mechanism of action

Not directly targeted; biological mechanisms involve transcriptional activation of MHC class II genes via the RFX complex

03

Biological functions

Regulation of MHC class II gene transcriptionImmune response modulation (adaptive immunity)Possibly transcriptional regulation of ciliary genes, in the context of other RFX family members
04

Disease associations

Bare lymphocyte syndrome type II, complementation group D (primary immunodeficiency due to defective MHC class II expression)Other MHC class II deficiency syndromes
05

Safety considerations

Loss-of-function mutations cause immunodeficiency (bare lymphocyte syndrome type II), leading to severe impairment of adaptive immunity
06

Biomarkers

Mutations or deficiency of RFXAP are used for diagnosis of bare lymphocyte syndrome type II

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