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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3716 1 1p31.3 NM_002227 Both: Oncogene and Tumor suppressor (PMID: 30606230)
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