In 2018, transmembrane protein 94 (TMEM94) garnered significant attention due to the correlation observed between biallelic loss-of-function variants in TMEM94 and neurodevelopmental delay, congenital heart defects, as well as distinctive facial dysmorphism1. This newly described disorder was named intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF)2. Notably, all mutations identified in TMEM94 were predicted to result in truncated proteins lacking the highly conserved C-terminal domain and exhibited a significant decrease in TMEM94 expression1. Recently, it has been reported that TMEM94 may also be implicated in overgrowth-intellectual disability3 and pancreatic adenocarcinoma4. Despite some advancements in the pathological aspect, the structural and functional mechanisms of TMEM94 remain enigmatic. Recently, TMEM94 was identified as the long-awaited endoplasmic reticulum (ER) Mg2+ ATPase and plays an indispensable role in facilitating Mg2+ uptake into the ER. Consequently, to reflect its newfound function, TMEM94 has been officially renamed as ER magnesium ATPase (ERMA)5. However, several scientists have challenged these findings through bioinformatic analysis6. The determination of whether TMEM94 is a distinct P-type ATPase or not necessitates further...Read more...
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