| Health / Medical Topics |
JAK2 wt Allele
Human JAK2 wild-type allele is located within 9p24 and is approximately 143 kb in length. This allele, which encodes tyrosine-protein kinase JAK2 protein, plays a role in interleukin 3 signal transduction. An allelic variant of the JAK2 gene, which exhibits a dominant gain of function mutation, is associated with several myeloproliferative disorders including polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. (NCI Thesaurus)
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A variation in the amino acid sequence for the tyrosine-protein kinase JAK2 protein.
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