C176567Level 5
RFX5 wt Allele
**Semantic type:** Gene or Genome
**Definition:** 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.
**Synonyms:** - Regulatory Factor X, 5 (Influences HLA Class II Expression) Gene - Regulatory Factor X, 5 Gene - Regulatory Factor X5 wt Allele
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Cross-system equivalences0
No cross-system equivalences mapped for this node.