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本月基因:.

Gene of the month: .

机构信息

Biomedical Sciences, Cape Peninsula University of Technology-Bellville Campus, Cape Town, Western Cape, South Africa

Department of Chemical Pathology, University of Pretoria Faculty of Health Sciences, Pretoria, Gauteng, South Africa.

出版信息

J Clin Pathol. 2020 Aug;73(8):441-443. doi: 10.1136/jclinpath-2020-206517. Epub 2020 May 13.

Abstract

Apolipoprotein L1 (APOL1) is a protein encoded by the gene, found only in humans and several primates. Two variants encoding two different isoforms exist for , namely G1 and G2. These variants confer increased protection against trypanosome infection, and subsequent African sleeping sickness, and also increase the likelihood of renal disease in individuals of African ancestry. mutations are associated with increased risk of chronic kidney disease, inflammation, and exacerbation of systemic lupus erythematosus-associated renal dysfunction. This review serves to outline the structure and function of APOL1, as well as its role in several disease outcomes.

摘要

载脂蛋白 L1(APOL1)是由基因编码的一种蛋白质,仅存在于人类和几种灵长类动物中。编码两种不同同工型的存在,即 G1 和 G2。这些变体增加了对锥虫感染的保护,从而降低了随后发生非洲昏睡病的风险,同时也增加了非洲血统个体患肾病的可能性。 突变与慢性肾病、炎症和系统性红斑狼疮相关肾功能障碍的恶化风险增加有关。本综述旨在概述 APOL1 的结构和功能,以及它在几种疾病结局中的作用。

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