C176572Level 5
RFXANK wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human RFXANK wild-type allele is located in the vicinity of 19p13.11 and is approximately 10 kb in length. This allele, which encodes DNA-binding protein RFXANK, is involved in transcriptional activation of major histocompatibility class II genes. Mutation of the gene is associated with type II bare lymphocyte syndrome (MHC class II deficiency), complementation group B.
**Synonyms:** - ANKRA1 - BLS - F14150_1 - MGC138628 - RFX-B - Regulatory Factor X Associated Ankyrin Containing Protein wt Allele - Regulatory Factor X, Ankyrin Repeat-Containing Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.