Transmembrane and coiled-coil domains 1 (TMCO1)

Transmembrane and coiled-coil domains 1 (TMCO1) is an **endoplasmic reticulum (ER) transmembrane protein** that forms a **calcium load-activated calcium (CLAC) channel** to prevent excessive accumulation of calcium ions within the ER[1][3][4][5][6]. When ER calcium concentration rises above normal, TMCO1 oligomerizes into a tetramer, forming a selective calcium channel that releases excess Ca^2+ into the cytoplasm to protect cellular function and maintain ER calcium homeostasis[1][3][4][5][6]. TMCO1 is widely expressed and plays vital roles in embryonic development, neural and skeletal formation, and cellular signal transduction through regulation of intracellular calcium[3][5]. Mutations or loss of function in TMCO1 cause **cerebro-facio-thoracic dysplasia**, characterized by severe developmental delay, distinctive craniofacial features, and skeletal abnormalities, and are also genetic risk factors for **primary open-angle glaucoma**[1][3]. TMCO1 interacts within the ER protein biosynthesis machinery and may impact protein folding and membrane protein assembly, although these functions are less well defined[3]. No clinical drugs are currently known to target TMCO1, and the direct pharmacological modulation of this protein has not been described in the literature.

Other names

Calcium load-activated calcium channelTMCC4PNAS-10UNQ151/PRO177CLAC channelHP10122GEL complex subunit TMCO1Transmembrane and coiled-coil domain-containing protein 1Transmembrane and coiled-coil domains protein 4Xenogeneic cross-immune protein PCIA3CFSMR1PCIA3PNAS-136Calcium load-activated Ca(2+) channel

Not applicable (no drugs known to target TMCO1 directly as of current knowledge)