JAK3 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - JAK-3 - JAKL - Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) Gene - Janus Kinase 3 wt Allele - Janus Kinase, Leukocyte Gene - L-JAK - LJAK