JAK2 gene: MedlinePlus Genetics | JAK2 V617F mutation

YouAreHere:Home→Genetics→Genes→JAK2geneURLofthispage:https://medlineplus.gov/genetics/gene/jak2/JAK2geneJanuskinase2FromGeneticsHomeReference.LearnmoreNormalFunctionTheJAK2geneprovidesinstructionsformakingaproteinthatpromotesthegrowthanddivision(proliferation)ofcells.ThisproteinispartofasignalingpathwaycalledtheJAK/STATpathway,whichtransmitschemicalsignalsfromoutsidethecelltothecell'snucleus.TheJAK2proteinisespeciallyimportantforcontrollingtheproductionofbloodcellsfromhematopoieticstemcells.Thesestemcellsarelocatedwithinthebonemarrowandhavethepotentialtodevelopintoredbloodcells,whitebloodcells,andplatelets.HealthConditionsRelatedtoGeneticChangesCrohndiseaseMedlinePlusGeneticsprovidesinformationaboutCrohndiseaseMoreAboutThisHealthConditionEssentialthrombocythemiaSomegenemutationsareacquiredduringaperson'slifetimeandarepresentonlyincertaincells.Thesechanges,whicharecalledsomaticmutations,arenotinherited.SomaticmutationsintheJAK2geneareassociatedwithessentialthrombocythemia,adisordercharacterizedbyanincreasednumberofplatelets,thebloodcellsinvolvedinnormalbloodclotting.Themostcommonmutation(writtenasVal617PheorV617F)replacestheproteinbuildingblock(aminoacid)valinewiththeaminoacidphenylalanineatposition617intheprotein.Thisparticularmutationisfoundinapproximatelyhalfofpeoplewithessentialthrombocythemia.AsmallnumberofaffectedindividualshaveasomaticmutationinanotherpartoftheJAK2geneknownasexon12.TheV617FJAK2genemutationresultsintheproductionofaJAK2proteinthatisconstantlyturnedon(constitutivelyactivated),which,inessentialthrombocythemia,leadstotheoverproductionofabnormalbloodcellscalledmegakaryocytes.Becauseplateletsareformedfrommegakaryocytes,theoverproductionofmegakaryocytesresultsinanincreasednumberofplatelets.Excessplateletscancauseabnormalbloodclotting(thrombosis),whichleadstomanysignsandsymptomsofessentialthrombocythemia.MoreAboutThisHealthConditionPolycythemiaveraSomaticmutationsintheJAK2geneareassociatedwithpolycythemiavera,adisordercharacterizedbyuncontrolledbloodce

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Analysis of JAK2V617F mutation in Jordanian patients with ... | JAK2 V617F mutation
Additional screening for mutations in other JAK2 exons from PV patients negative for the JAK2V617F mutation revealed four novel mutations in exon 12.9, 10 The ...
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The JAK2 V617F mutation is a result of a single change in the DNA nucleotide base pair that causes a substitution of a valine amino acid for a phenylalanine ...
JAK2 Mutation | JAK2 V617F mutation
JAK2 V617F mutation is acquired as opposed to inherited and results in the change of a single DNA nucleotide base pair. In JAK2, this kind of ...
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The JAK2V617F tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis. Int J ...
JAK2V | JAK2 V617F mutation
The JAK2 V617F is present in 95% to 98% of polycythemia vera, 50% to 60% of primary myelofibrosis (PMF), and 50% to 60% of essential thrombocythemia (ET).
Detection of JAK2 V617F mutation increases the diagnosis of ... | JAK2 V617F mutation
It has been demonstrated that the JAK2 V617F point mutation, a common molecular genetic abnormality, occurs in polycythemia vera (PV), essential thrombocythemia histiocytosis (ET) and primary myelofibrosis (PMF); therefore, the JAK2 mutation may be an important diagnostic tool for the detection of myeloproliferative ...
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Background: The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to ...
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The JAK2 V617F mutation in MPDs can be detected by a variety of methods. The simplest method is to isolate DNA from whole blood leukocytes and use PCR-direct sequencing. However, since the mutation is acquired and restricted to the myeloid lineage this method has a sensitivity of between 20 to 30%.
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JAK2 gene: MedlinePlus Genetics | JAK2 V617F mutation
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