Thpo

Two-domain structure with an erythropoietin-like N-terminal and a Ser/Pro/Thr-rich C-terminal.

Lineage-specific cytokine affecting the proliferation and maturation of megakaryocytes from their committed progenitor cells. It acts at a late stage of megakaryocyte development. It may be the major physiological regulator of circulating platelets.

Thrombocythemia 1

THCYT1

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Amegakaryocytic thrombocytopenia, congenital, 2

CAMT2

A 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. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia.

None

The disease is caused by variants affecting the gene represented in this entry.

Thrombocytopenia 9

THC9

A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC9 is an autosomal dominant form characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others may be asymptomatic.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the EPO/TPO family.

• Secreted

MGDF, THPO, Thrombopoietin, C-mpl ligand, Megakaryocyte colony-stimulating factor, Megakaryocyte growth and development factor, Myeloproliferative leukemia virus oncogene ligand, ML

• entrezGene:7066
• omim:600044
• swissprot:P40225

Proteins

Cardiovascular

37823Da