Function
Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites for many signaling proteins such as STAT5, SHIP/INPP5D, GRB2, SOS1 and PI3K. In turn, These signaling cascades lead to the proliferation, survival, and differentiation of megakaryocytes, ultimately leading to increased platelet production.
Biological Context
Subcellular Location: Cell membrane (Single-pass type I membrane protein); Golgi apparatus; Cell surface
Tissue Specificity: Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and isoform 2 are always found to be coexpressed
Disease Association: Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) : An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. [The disease is caused by variants affecting the gene represented in this entry] | Thrombocythemia 2 (THCYT2) : A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. [The disease is caused by variants affecting the gene represented in this entry] | Myelofibrosis with myeloid metaplasia (MMM) : A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Thrombopoietin receptor (MPL), partial is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 26-491aa, with N-terminal 6xHis-tagged tag, molecular weight 56.5kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
