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溶质载体家族4结构、功能及疾病相关性研究进展

董晶^1,2, 许亚丽^1,2, 马宇^1,2, 段小红^2,*

¹西北大学生命科学学院，西安 710069；²军事口腔医学国家重点实验室，口腔疾病国家临床医学研究中心，陕西省口腔医学重点实验室，第四军医大学口腔医学院口腔生物学教研室，西安 710032

摘要

溶质载体家族4 (solute carrier family 4, SLC4)包括10个成员(SLC4A1~5, SLC4A7~11)，分别表达于人体内多个组织，不同成员在其底物依赖、电荷转运化学计量和组织表达等方面有所不同，其共同功能是参与多种离子的跨膜交换，涉及许多重要的生理过程，如红细胞CO2运输、细胞体积和细胞内pH调节等。近几年，很多研究发现SLC4家族成员与人类疾病发生相关，当SLC4家族成员发生基因突变时，机体会发生一系列功能障碍进而导致一些疾病发生。本综述对SLC4家族各成员的结构和功能以及疾病相关性的研究进展进行了总结和分析，以期为此类疾病的防治提供参考。

关键词： 溶质载体家族4; 碳酸氢盐转运体; 结构和功能; 遗传病

Research progress on structure, function and disease correlation of solute carrier family 4

DONG Jing^1,2, XU Ya-Li^1,2, MA Yu^1,2, DUAN Xiao-Hong^2,*

¹The College of Life Sciences of Northwest University, Xi’an 710069, China；²State Key Laboratory of Military Stomatology & National Clinical Research Center for Oral Disease & Shaanxi Key laboratory of Stomatology, Department of Oral Biology, School of Stomatology, the Fourth Military Medical University, Xi’an 710032, China

Abstract

The solute carrier family 4 (SLC4) includes 10 members (SLC4A1–5, SLC4A7–11), which are expressed in multiple tissues in the human body. The SLC4 family members differ in their substrate dependence, charge transport stoichiometry and tissue expression. Their common function is responsible for the transmembrane exchange of multiple ions, which is involved in many important physiological processes, such as erythrocyte CO2 transport and the regulation of cell volume and intracellular pH. In recent years, many studies have focused on the role of SLC4 family members in the occurrence of human diseases. When SLC4 family members have gene mutations, a series of functional disorders will occur in the body, leading to the occurrence of some diseases. This review summarizes the recent progress about the structures, functions and disease correlation of SLC4 members, in order to provide clues for the prevention and treatment of related human diseases.

Key words: solute carrier family 4; bicarbonate transporter; structure and function; genetic disorder

收稿日期：　　录用日期：

通讯作者：段小红　　E-mail:

DOI: 10.13294/j.aps.2023.0008

引用本文：

董晶, 许亚丽, 马宇, 段小红. 溶质载体家族4结构、功能及疾病相关性研究进展[J]. 生理学报 2023; 75 (1): 137-150.

DONG Jing, XU Ya-Li, MA Yu, DUAN Xiao-Hong. Research progress on structure, function and disease correlation of solute carrier family 4. Acta Physiol Sin 2023; 75 (1): 137-150 (in Chinese with English abstract).