Gene Symbol | JAK3 |
Entrez Gene ID | 3718 |
Full Name | Janus kinase 3 |
Synonyms | JAK-3,JAK3_HUMAN,JAKL,L-JAK,LJAK |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) |