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Hayward Genetics Center ~ Tests ~ JAK2

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JAK2 Kinase is a member of a family of tyrosine kinases involved in cytokine receptor signaling.  The V617F mutation in JAK2 induces constitutive activation of JAK2 kinase activity, resulting in cytokine/growth factor-independent cell survival and proliferation.  Constitutive activation of this pathway is frequently found in myeloproliferative disorders (MPD’s) including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), and chronic myeloid leukemia (CML).  Accordingly, identification of this V617F JAK2 mutation in MPD may assist in identifying MPD and pharmacologic treatment targeting the aberrant tyrosine kinase.