EPO（促红细胞生成素）是一种由肾脏和肝脏分泌的糖蛋白激素，主要功能是刺激骨髓中的红系祖细胞增殖和分化，促进红细胞生成，从而维持机体的氧平衡。EPO通过与细胞表面的EPO受体（EPOR）结合激活JAK2/STAT5信号通路，促进红细胞前体细胞的存活和成熟。EPO主要在肾脏的管周细胞和肝细胞中表达，低氧环境（如高原或缺血）会显著上调其表达。EPO基因突变可能导致先天性红细胞增多症或贫血，例如某些突变会使其对缺氧诱导因子（HIF）的调控不敏感。EPO与多种疾病相关，如慢性肾病常伴随EPO分泌不足导致肾性贫血，而某些肿瘤会异常分泌EPO引发继发性红细胞增多症。EPO过表达可能导致红细胞过度增殖，增加血液黏稠度和血栓风险；而表达不足则导致贫血、组织缺氧。EPO还表现出非造血功能，如对神经和心脏组织的保护作用。EPO属于I型细胞因子家族，该家族成员均为分泌型糖蛋白，通过I型细胞因子受体传递信号，共同参与造血、免疫调节等生理过程。此外，EPO类似物（如达依泊汀α）被广泛用于治疗贫血，但需注意其潜在副作用如高血压和血栓形成。

此基因是促红细胞生成素/ TPO家族的一个成员，编码四个α螺旋束组成的分泌，糖化细胞因子。该蛋白在血浆中发现，通过促进红细胞分化和发起血红蛋白合成调控红细胞的生产。这种蛋白质还具有抗多种组织类型的多种潜在的脑损伤和抗凋亡作用的神经保护作用。 [由RefSeq的，2008年7月提供]

Erythropoietin (EPO) is a glycoprotein hormone belonging to the type I cytokine family, primarily synthesized and secreted by peritubular cells in the kidney and hepatocytes in the liver, where it serves as the principal regulator of erythropoiesis to maintain systemic oxygen homeostasis. Its physiological action is mediated through high-affinity binding to the erythropoietin receptor (EPOR), which triggers the activation of the JAK2/STAT5 signaling cascade, thereby promoting the survival, proliferation, and differentiation of erythroid progenitor cells in the bone marrow. Expression of the EPO gene is tightly regulated by hypoxic conditions, such as those encountered at high altitudes or during ischemia, via the hypoxia-inducible factor (HIF) pathway, which significantly upregulates transcription to compensate for reduced oxygen delivery. Disruptions in this regulatory axis or genetic mutations in the EPO gene can lead to severe hematologic disorders, including congenital erythrocytosis or anemia, particularly when mutations render the gene insensitive to HIF-mediated control. Clinically, EPO deficiency is a hallmark of chronic kidney disease, resulting in renal anemia, while ectopic production by certain tumors can drive secondary polycythemia. Beyond its canonical hematopoietic role, EPO exerts pleiotropic effects, including neuroprotective and cardioprotective actions in non-hematopoietic tissues. However, dysregulated EPO levels pose significant risks; excessive erythropoiesis increases blood viscosity and the likelihood of thromboembolic events, whereas insufficient levels cause tissue hypoxia. Consequently, recombinant EPO analogs, such as darbepoetin alfa, are widely employed in the therapeutic management of anemia, although their use requires careful monitoring to mitigate adverse effects such as hypertension and thrombosis.

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