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

Calcium ions (Ca2+) 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 Ca2+ 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.