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Article

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.

The EMBO journal - 3 Mar 1997

Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W

Abstract excerpt

Major Histocompatibility Complex class II (MHC-II) deficiency is a disease of gene regulation that provides a unique opportunity for the genetic dissection of the molecular mechanisms controlling transcription of MHC-II genes. Cell lines from MHC-II deficiency patients have been assigned to three complementation groups (A, B and C) believed to reflect the existence of distinct essential MHC-II regulatory genes....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 9118943
DOI: 10.1093/emboj/16.5.1045
PMCID: PMC1169704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.PMID 9118943Read ↗

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.Semantic proximity Read ↗

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.Semantic proximity Read ↗

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).Semantic proximity Read ↗

Genetic and molecular definition of complementation group D in MHC class II deficiency.Semantic proximity Read ↗

Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complexSemantic proximity Read ↗

The DNA-binding defect observed in major histocompatibility complex class II regulatory mutants concerns only one member of a family of complexes binding to the X boxes of class II promoters.Semantic proximity Read ↗

Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression.Semantic proximity Read ↗

New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.Semantic proximity Read ↗

Identification and characterization of novel human tissue-specific RFX transcription factorsSemantic proximity Read ↗

RFX1, a Transactivator of Hepatitis B Virus Enhancer I, Belongs to a Novel Family of Homodimeric and Heterodimeric DNA-Binding ProteinsSemantic proximity Read ↗

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