" /> RAG1 wt Allele - CISMeF





Preferred Label : RAG1 wt Allele;

NCIt synonyms : Recombination Activating Protein 1 Gene; RING Finger Protein 74 Gene; Recombination Activating Gene 1 Gene; MGC43321; V(D)J Recombination-Activating Protein 1 Gene; RNF74; RAG-1; Recombination Activating 1 wt Allele; Recombination-Activating Gene 1 Gene;

NCIt definition : Human RAG1 wild-type allele is located in the vicinity of 11p13 and is approximately 12 kb in length. This allele, which encodes V(D)J recombination-activating protein 1, plays a role in the mediation 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 RAG1 gene are associated with combined cellular and humoral immune defects with granulomas, severe combined immunodeficiency, Omenn syndrome and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity. (UniProt);

GenBank Accession Number : M29474;

PubMed : 19039135;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :


Nous contacter.
12/05/2024


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.