" /> JAK3 wt Allele - CISMeF





Preferred Label : JAK3 wt Allele;

NCIt synonyms : LJAK; JAKL; L-JAK; Janus Kinase, Leukocyte Gene; Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) Gene; JAK-3; Janus Kinase 3 wt Allele;

NCIt definition : Human JAK3 wild-type allele is located in the vicinity of 19p13.1 and is approximately 22 kb in length. This allele, which encodes tyrosine-protein kinase JAK3 protein, plays a role in signal transduction in the interleukin-2 and interleukin-4 signaling pathways. Mutations in the JAK3 gene which abolish the tyrosine-protein kinase activity of its protein product cause autosomal severe combined immunodeficiency disease.;

NCIt note : The JAK3 gene is expressed primarily in immune cells. Interleukin receptors activate tyrosine-protein kinase JAK3 protein via tyrosine phosphorylation.;

GenBank Accession Number : NM_000215;

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15/05/2024


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