RFX5 wt Allele

Preferred Label : RFX5 wt Allele;

NCIt synonyms : Regulatory Factor X, 5 (Influences HLA Class II Expression) Gene; Regulatory Factor X, 5 Gene; Regulatory Factor X5 wt Allele;

NCIt 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.;

NCI Metathesaurus CUI : CL1642403;

GenBank Accession Number : NM_000449;

Details

Origin ID

C176567;

UMLS CUI

C5445024;

OMIM relation
- Regulatory factor X, 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q21.3 [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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