JAK1 - Gene Detail
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| Gene Symbol | JAK1 | ||||||||||||
| Synonyms | AIIDE | JAK1A | JAK1B | JTK3 | ||||||||||||
| Gene Description | JAK1, Janus kinase 1, is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway (PMID: 15575979) and plays a role in the immune response (PMID: 31892268). JAK1 gain of function mutations have been identified in T-cell neoplasms (PMID: 30079384) and loss of function mutations are associated with high mutational burden and microsatellite instability (PMID: 29121062). | ||||||||||||
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