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Biomarker: JAK2 (pY1007/1008)

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Analyte:

JAK2 (pY1007/1008)

Platform:

Status:

Experienced Running

Biological or Clinical Significance:

Janus kinase 2 (commonly called JAK2) is a non-receptor tyrosine kinase. It is a member of the Janus kinase family and has been implicated in signaling by members of the type II cytokine receptor family (e.g. interferon receptors), the GM-CSF receptor family, the gp130 receptor family (e.g., IL-6R), and the single chain receptors. JAK2 signaling is activated downstream from the prolactin receptor.

JAK2 gene fusions with the TEL(ETV6) (TEL-JAK2) and PCM1 genes have been found in leukemia patients. Jak – 2 kinase mutations were found to have a high correlation with abnormal heart defects in those of Southeast Asian descent carrying the PYFA gene. Mutations in JAK2 have been implicated in polycythemia vera, essential thrombocythemia, and myelofibrosis as well as other myeloproliferative disorders.

References:

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