RFXANK wt Allele

Preferred Label : RFXANK wt Allele;

NCIt synonyms : MGC138628; F14150_1; RFX-B; Regulatory Factor X, Ankyrin Repeat-Containing Gene; Regulatory Factor X Associated Ankyrin Containing Protein wt Allele; ANKRA1; BLS;

NCIt 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.;

NCI Metathesaurus CUI : CL1642409;

GenBank Accession Number : AF094760;

Details

Origin ID

C176572;

UMLS CUI

C5444048;

Automatic exact mappings (from CISMeF team)
- Bare lymphocyte syndrome, type II [OMIM Phenotype]
- Bloom syndrome [OMIM Phenotype]
- Severe combined immunodeficiency due to absent class II human leukocyte antigens (disorder) [SNOMED CT concept]
- regulatory factor X associated ankyrin containing protein [ORDO Gene]
OMIM relation
- Regulatory factor X, ankyrin repeat-containing [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.11 [NCIt concept]
gene_is_element_in_pathway
- Antigen Processing and Presentation Pathway [NCIt concept]
- HDAC Class II Signaling 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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