" /> RAG2 wt Allele - CISMeF





Preferred Label : RAG2 wt Allele;

NCIt synonyms : Recombination Activating 2 wt Allele; RAG-2; V(D)J Recombination-Activating Protein 2 Gene; Recombination-Activating Gene 2 Gene; Recombination Activating Gene 2 Gene;

NCIt definition : Human RAG2 wild-type allele is located in the vicinity of 11p13 and is approximately 6 kb in length. This allele, which encodes V(D)J recombination-activating protein 2, is involved in the regulation of immunoglobulin recombination. Mutation of the gene is associated with several hereditary immunodeficiencies. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.;

NCIt note : Mutations in the RAG2 gene are associated with combined cellular and humoral immune defects with granulomas, severe combined immunodeficiency, and Omenn syndrome. (UniProt);

GenBank Accession Number : AF080577;

PubMed : 19039135;

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31/05/2025


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