" /> RFXAP wt Allele - CISMeF





Preferred Label : RFXAP wt Allele;

NCIt synonyms : Regulatory Factor X Associated Protein wt Allele;

NCIt definition : Human RFXAP wild-type allele is located in the vicinity of 13q13.3 and is approximately 10 kb in length. This allele, which encodes regulatory factor X-associated protein, plays a role in the promotion of class II major histocompatibility gene transcription. Mutation of the gene is associated with type II bare lymphocyte syndrome (MHC class II deficiency), complementation group D.;

NCI Metathesaurus CUI : CL1642408;

GenBank Accession Number : Y12812;

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31/07/2025


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