Activating JAK3 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the JAK3 gene that results in constitutive activation of both tyrosine-protein kinase JAK3 and its downstream signaling pathways.

**Synonyms:** - Activating JAK-3 Gene Mutation - Activating JAK3 Mutation - Activating JAKL Gene Mutation - Activating Janus Kinase 3 Gene Mutation - Activating L-JAK Gene Mutation - Activating LJAK Gene Mutation - JAK3 Activating Gene Mutation - JAK3 Activating Mutation