| 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) |

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