Meyahealth
HomeGeneticsGeneMPL gene
Back to Gene
MPL gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MPL gene

The MPL gene provides instructions for making the thrombopoietin receptor protein, which is essential for blood cell production and the maintenance of hematopoietic stem cells.

Normal Function

The MPL gene provides instructions for making the thrombopoietin receptor protein, which promotes the growth and division (proliferation) of cells. This receptor is especially important for the proliferation of certain blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Research suggests that the thrombopoietin receptor may also play a role in the maintenance 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.

The thrombopoietin receptor is turned on (activated) when a protein called thrombopoietin attaches (binds) to it. The activated thrombopoietin receptor stimulates a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus and is important for controlling the production of blood cells.

Health Conditions Related to Genetic Changes

Essential thrombocythemia

Several mutations in the MPL gene have been associated with a small number of cases of essential thrombocythemia, a condition characterized by an increased number of platelets in the blood. Abnormal clotting (thrombosis) is common in people with this condition.

  • Familial essential thrombocythemia: Caused by a mutation that replaces the amino acid serine with asparagine at position 505 (Ser505Asn or S505N).
  • Sporadic essential thrombocythemia: Associated with mutations that replace tryptophan at position 515 with another amino acid, most commonly leucine (referred to as W515 mutations).

These mutations result in a thrombopoietin receptor protein that is constantly turned on (constitutively activated), leading to the overproduction of abnormal megakaryocytes and excess platelets.

Primary myelofibrosis

Some people with primary myelofibrosis, a condition characterized by scar tissue (fibrosis) in the bone marrow, carry W515 mutations in the MPL gene. These mutations lead to a constitutively activated receptor and the overproduction of abnormal megakaryocytes. These cells stimulate others to release collagen, which causes scar tissue formation, ultimately preventing the bone marrow from producing enough normal blood cells.

Other disorders

Mutations in the MPL gene cause a rare condition called congenital amegakaryocytic thrombocytopenia (CAMT). This condition begins in infancy and is characterized by low numbers of megakaryocytes and platelets, which can lead to bone marrow failure.

  • CAMT I: A severe form caused by a complete lack of thrombopoietin receptor function.
  • CAMT II: A milder form where some thrombopoietin receptor function remains.

Other Names for This Gene

  • C-MPL
  • CD110
  • MPLV
  • myeloproliferative leukemia protein
  • myeloproliferative leukemia virus oncogene
  • proto-oncogene c-Mpl
  • thrombopoietin receptor
  • thrombopoietin receptor precursor
  • TPO-R
  • TPOR
  • TPOR_HUMAN

Frequently Asked Questions

Symptoms such as unexplained bruising, petechiae, headaches, or episodes of clotting (e.g., deep vein thrombosis) in a person with persistently elevated platelets (>450 × 10⁹/L) should raise suspicion. A complete blood count (CBC) followed by molecular testing for MPL mutations is the standard approach. How is essential thrombocythemia treated when an MPL mutation is present?::Treatment typically starts with low‑dose aspirin to reduce clot risk. If platelet counts remain high or symptoms persist, cytoreductive therapy with hydroxyurea or interferon‑alpha may be added. The choice depends on age, pregnancy status, and risk factors. What is the risk of blood clots in patients with an MPL‑driven essential thrombocythemia, and how is it managed?::The risk is higher than in the general population, especially for those with the W515 mutation. Patients are monitored with regular CBCs and, if needed, imaging studies. Anticoagulation with warfarin or direct oral anticoagulants may be prescribed if a thrombotic event occurs. Can a person with an MPL mutation pass it on to their children, and what are the inheritance implications?::MPL mutations associated with essential thrombocythemia are usually somatic (acquired) rather than inherited. However, rare germline mutations can be passed on in an autosomal dominant pattern. Genetic counseling is recommended for families concerned about hereditary risk.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ