作为与疾病相关的关键基因,SLC29A3基因编码平衡核苷转运蛋白3(ENT3)。ENT3在转运细胞内亲水性核苷中起着重要的调节作用,核苷酸,亲水性抗癌和抗病毒核苷药物,能量代谢,亚细胞定位,蛋白质稳定性,和信号转导。SLC29A3的突变和失活与发生密切相关,发展,和各种人类肿瘤的预后。此外,许多人类遗传性疾病,如H综合征,色素性多毛症和非自身免疫性胰岛素依赖型糖尿病(PHID)综合征,费萨拉巴德组织细胞增生症(FHC),与SLC29A3突变有关。本文综述了SLC29A3突变和表达改变在遗传性疾病和癌症中的作用机制。此外,我们对ENT3的抑制作用进行了研究,这可能是增强化疗抗癌活性的有效策略。因此,遗传学的概要,ENT3的渗透功能和药物治疗为其诊断提供了新的理论和经验基础,评估和治疗各种相关疾病的预后。
As a crucial gene associated with diseases, the SLC29A3 gene encodes the equilibrative nucleoside transporter 3 (ENT3). ENT3 plays an essential regulatory role in transporting intracellular hydrophilic nucleosides, nucleotides, hydrophilic anticancer and antiviral nucleoside drugs, energy metabolism, subcellular localization, protein stability, and signal transduction. The mutation and inactivation of SLC29A3 are intimately linked to the occurrence, development, and prognosis of various human tumors. Moreover, many hereditary human diseases, such as H syndrome, pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad
histiocytosis (FHC), are related to SLC29A3 mutations. This review explores the mechanisms of SLC29A3 mutations and expression alterations in inherited disorders and cancers. Additionally, we compile studies on the inhibition of ENT3, which may serve as an effective strategy to potentiate the anticancer activity of chemotherapy. Thus, the synopsis of genetics, permeant function and drug therapy of ENT3 provides a new theoretical and empirical foundation for the diagnosis, prognosis of evaluation and treatment of various related diseases.