TMCO1作为一种内质网钙负荷激活通道：机制及对疾病的影响

TMCO1 as an Endoplasmic Reticulum Calcium Load-Activated Channel: Mechanisms and Disease Implications.

作者信息

Wang Jingbo, Zhu Panpan, Li Zhuohang, Su Xiaohui, Qi Mingzhu, Zhou Aimin, Kong Xiangying

机构信息

Institute of Chinese Materia Medica, China Academy of Chinese Medical Sciences, Beijing 100700, China.

Department of Chemistry, Center for Gene Regulation in Health and Diseases, Cleveland State University, Cleveland, OH 44115, USA.

出版信息

Biomolecules. 2025 Aug 20;15(8):1200. doi: 10.3390/biom15081200.

DOI:10.3390/biom15081200

PMID:40867644

Abstract

Calcium ions (Ca) play a vital role in many biological processes. Transmembrane and coiled-coil domain 1 (TMCO1) has been characterized as an endoplasmic reticulum (ER) transmembrane protein in recent years. It keeps the cytoplasm and ER's Ca homeostasis stable by acting as a novel calcium channel. Studies from different laboratories have revealed that the mutation or deficiency of TMCO1 is closely correlated with several diseases, including cerebro-facio-thoracic dysplasia (CFTD), glaucoma, premature ovarian failure (POF), osteoporosis, and cancer. Here, we review the characteristics of TMCO1 and its involvement in related diseases, which may provide useful information for developing therapeutic strategies for these diseases, as well as promote further research on this protein.

摘要

钙离子（Ca）在许多生物过程中起着至关重要的作用。近年来，跨膜卷曲螺旋结构域1（TMCO1）已被鉴定为一种内质网（ER）跨膜蛋白。它作为一种新型钙通道，维持细胞质和内质网的钙稳态稳定。来自不同实验室的研究表明，TMCO1的突变或缺陷与多种疾病密切相关，包括脑面胸发育不良（CFTD）、青光眼、卵巢早衰（POF）、骨质疏松症和癌症。在此，我们综述了TMCO1的特征及其在相关疾病中的作用，这可能为这些疾病的治疗策略开发提供有用信息，并促进对该蛋白的进一步研究。