MPL
MIM.159530 1p34
The MPL gene encodes the receptor for thrombopoietin (THPO; MIM.600044), a hematopoietic growth factor that regulates the production of multipotent hematopoietic progenitor cells and platelets.
Pathology
germline mutations in
- congenital amegakaryocytic thrombocytopenia (MIM.604498)
- susceptibility to thrombocythemia
- autsomal dominant essential thrombocythemia
- somatic myelofibrosis with myeloid metaplasia (MIM.254450)
Mutants
MPL-W515L
References
The analysis of JAK2 and MPL mutations and JAK2 single nucleotide polymorphisms in MPN patients by MassARRAY assay. Zhang SJ, Qiu HX, Li JY, Shi JY, Xu W. Int J Lab Hematol. 2010 Mar 23. PMID: #20331763#
JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms. Siemiatkowska A, Bieniaszewska M, Hellmann A, Limon J. Leuk Res. 2010 Mar;34(3):387-9. PMID: #19643476#
Identification of MPL W515L/K mutations in patients with primary myelofibrosis and essential thrombocythaemia by allele-specific polymerase chain reaction. Daly S, Conneally E, Langabeer SE. Acta Haematol. 2009;121(4):221-2. PMID: #19521067#