JAK2 Mutation Detection Kit
The JAK family of non-receptor tyrosine kinases includes JAK1, JAK2, JAK3, and TYK2. Growth factors and cytokines can regulate gene transcription through JAK-dependent activation of signal transducer and activator of transcription (STAT). The JAK-STAT signal transduction pathway regulates cell proliferation, differentiation, apoptosis and immune regulation.
Activation of JAK2 by mutation of the amino acid at position 617 (V617F) is associated with myeloproliferative disorders (MPD), including polycythemia vera (mutations found in 90% of cases), essential thrombocythemia (50%) and idiopathic myelofibrosis (50%). JAK2 mutation is the main diagnostic indicator of MPD.