Structural highlights
Disease
TPO_HUMAN Defects in THPO are the cause of thrombocythemia type 1 (THCYT1) [MIM:187950. A myeloproliferative disorder characterized by elevated platelet levels due to sustained proliferation of megakaryocytes, and frequently lead to thrombotic and haemorrhagic complications.[1]
Function
TPO_HUMAN 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.
References
- ↑ 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. PMID:9425899 doi:10.1038/ng0198-49
