Lin Chung-Ming, Fu Ru-Huei, Chen Hui-Jye
Department of Biotechnology, School of Health and Medical Engineering, Ming Chuan University, Taoyuan 33348, Taiwan.
Translational Medicine Research Center, China Medical University Hospital, Taichung 40447, Taiwan.
Int J Mol Sci. 2025 Mar 30;26(7):3204. doi: 10.3390/ijms26073204.
Microtubule-actin cross-linking factor 1 (MACF1), also known as actin cross-linking family protein 7 (ACF7), is a giant cytolinker protein with multiple conserved domains that can orchestrate cytoskeletal networks of actin and microtubules. MACF1 is involved in various biological processes, including cell polarity, cell-cell connection, cell proliferation, migration, vesicle transport, signal transduction, and neuronal development. In this review, we updated the physiological and pathological roles of MACF1, highlighting the components and signaling pathways involved. Novel evidence showed that MACF1 is involved in diverse human diseases, including multiple neuronal diseases, congenital myasthenic syndrome, premature ovarian insufficiency, spectraplakinopathy, osteoporosis, proliferative diabetic retinopathy, and various types of cancer. We also reviewed the physiological roles of MACF1, including its involvement in adhesome formation, bone formation, neuronal aging, and tooth development. In addition, MACF1 plays other roles, functioning as a biomarker for the prediction of infections in patients with burns and as a marker for genome selection breeding. These studies reinforce the idea that MACF1 is a bona fide versatile, multifaceted giant protein. Identifying additional MACF1 functions would finally help with the treatment of diseases caused by MACF1 defects.
微管-肌动蛋白交联因子1（MACF1），也被称为肌动蛋白交联家族蛋白7（ACF7），是一种具有多个保守结构域的巨大细胞连接蛋白，能够协调肌动蛋白和微管的细胞骨架网络。MACF1参与多种生物学过程，包括细胞极性、细胞间连接、细胞增殖、迁移、囊泡运输、信号转导和神经元发育。在本综述中，我们更新了MACF1的生理和病理作用，重点介绍了其涉及的组成成分和信号通路。新证据表明，MACF1与多种人类疾病有关，包括多种神经元疾病、先天性肌无力综合征、卵巢早衰、光谱plakinopathy、骨质疏松症、增殖性糖尿病视网膜病变以及各种类型的癌症。我们还综述了MACF1的生理作用，包括其参与黏附体形成、骨形成、神经元衰老和牙齿发育。此外，MACF1还发挥其他作用，作为烧伤患者感染预测的生物标志物以及基因组选择育种的标志物。这些研究强化了MACF1是一种真正多功能、多面的巨大蛋白的观点。确定MACF1的其他功能最终将有助于治疗由MACF1缺陷引起的疾病。
