C176576Level 5
RFXAP wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - Regulatory Factor X Associated Protein wt Allele
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