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THPO gene

thrombopoietin
From Genetics Home Reference. Learn more

Normal Function

The THPO gene provides instructions for making a protein called thrombopoietin that promotes the growth and division (proliferation) of cells. This protein attaches to (binds) and turns on (activates) the thrombopoietin receptor, which stimulates several signaling pathways that transmit chemical signals from outside the cell to the cell's nucleus. These pathways are important for controlling the production of blood cells.

Thrombopoietin is especially important for the proliferation of certain blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Research suggests that thrombopoietin signaling may also play a role in the renewal of hematopoietic stem cells, which are stem cells located within the bone marrow that have the potential to develop into red blood cells, white blood cells, and platelets.

Health Conditions Related to Genetic Changes

Essential thrombocythemia

Several mutations in the THPO gene have been found in people with essential thrombocythemia, a condition characterized by an increased number of platelets in the blood. Because platelets are the blood cells involved in blood clotting, abnormal clotting (thrombosis) is common in people with essential thrombocythemia.

THPO gene mutations are found in families with an inherited form of the condition called familial essential thrombocythemia. These mutations affect a region of the gene that usually blocks (inhibits) the production of the thrombopoietin protein (a process called translation). THPO gene mutations lead to increased translation of the protein. The excess protein can abnormally activate the thrombopoietin receptor and the signaling pathways, leading to overproduction of megakaryocytes and increased numbers of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia.

More About This Health Condition

Other Names for This Gene

  • c-mpl ligand
  • megakaryocyte colony-stimulating factor
  • megakaryocyte growth and development factor
  • megakaryocyte stimulating factor
  • MGC163194
  • MGDF
  • MKCSF
  • ML
  • MPL ligand
  • MPLLG
  • myeloproliferative leukemia virus oncogene ligand
  • TPO
  • TPO_HUMAN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • de Graaf CA, Metcalf D. Thrombopoietin and hematopoietic stem cells. Cell Cycle. 2011 May 15;10(10):1582-9. Epub 2011 May 15. Review. Citation on PubMed or Free article on PubMed Central
  • Ghilardi N, Skoda RC. A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA. Blood. 1999 Aug 15;94(4):1480-2. Citation on PubMed
  • Ghilardi N, Wiestner A, Skoda RC. Thrombopoietin production is inhibited by a translational mechanism. Blood. 1998 Dec 1;92(11):4023-30. Citation on PubMed
  • Majka M, Ratajczak J, Villaire G, Kubiczek K, Marquez LA, Janowska-Wieczorek A, Ratajczak MZ. Thrombopoietin, but not cytokines binding to gp130 protein-coupled receptors, activates MAPKp42/44, AKT, and STAT proteins in normal human CD34+ cells, megakaryocytes, and platelets. Exp Hematol. 2002 Jul;30(7):751-60. Citation on PubMed
  • Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet. 1998 Jan;18(1):49-52. Citation on PubMed
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