RFXAP wt Allele

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;

Details

Origin ID

C176576;

UMLS CUI

C5445025;

OMIM relation
- Regulatory factor X-associated protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q13.3 [NCIt concept]
gene_is_element_in_pathway
- Antigen Processing and Presentation Pathway [NCIt concept]
- Primary Immunodeficiency Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Immune System Process [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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