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  • Human RFX5 wild-type allele is located in the vicinity of 1q21.3 and is approximately 7 kb in length. This allele, which encodes DNA-binding protein RFX5, plays a role in the regulation of class II major histocompatibility gene expression. Mutation of the gene is associated with type II bare lymphocyte syndrome (MHC class II deficiency), complementation groups C and E.
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