HLA-B wt Allele

Preferred Label : HLA-B wt Allele;

NCIt synonyms : Major Histocompatibility Complex, Class I, B wt Allele; HLAB;

NCIt definition : HLA-B wild-type allele is located in the vicinity of 6p21.3 and is approximately 3 kb in length. This allele, which encodes HLA class I histocompatibility antigen, B-7 alpha chain protein, plays a role in peptide presentation by the immune system. Certain allelic variants of the HLA-B gene are associated with susceptibility to ankylosing spondylitis, carbamazepine-induced Stevens-Johnson syndrome and allopurinol-induced severe cutaneous adverse reaction.;

NCIt note : An allelic variant of the HLA-B gene is associated with hypersensitivity to Abacavir, an HIV reverse transcriptase inhibitor used in combination with other antivirals in the treatment of HIV infection.;

GenBank Accession Number : NM_005514;

Details

Origin ID

C62779;

UMLS CUI

C1881021;

Automatic exact mappings (from CISMeF team)
- HLA-B [LOINC component]
- HLA-B antigens [MeSH Descriptor]
- HLA-DR [LOINC component]
- HLA-DR Ag [LOINC component]
- HLA-DR antigens [MeSH Descriptor]
- Major histocompatibility complex, class I, b [OMIM Phenotype]
- major histocompatibility complex, class I, B [ORDO Gene]
OMIM relation
- Major histocompatibility complex, class I, b [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.3 [NCIt concept]
gene_is_element_in_pathway
- Antigen Presentation Pathway [NCIt concept]
gene_plays_role_in_process
- Antigen Presentation [NCIt concept]
- Immune Response Process [NCIt concept]
- Immune System Process [NCIt concept]
- Immunoregulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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