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The author performed the first molecular cloning of the mysterin gene as the final step in genetic exploration of cerebrovascular moyamoya disease (MMD) and initiated the next round of exploration to understand its molecular and cellular functions. Although much remains unknown, accumulating findings suggest that mysterin functions in cells by targeting massive intracellular structures, such as lipid droplets (LDs) and various invasive pathogens. In the latter case, mysterin appears to directly surround and ubiquitylate the surface of pathogens and stimulate cell-autonomous antimicrobial reactions, such as xenophagy and inflammatory response. To date, multiple mutations causing MMD have been identified within and near the RING finger domain of mysterin; however, their functional relevance remains largely unknown. Besides the RING finger, mysterin harbors a dynein-like ATPase core and an RZ finger, another ubiquitin ligase domain unique to mysterin, while functional exploration of these domains has also just commenced. In this review, the author attempts to summarize the core findings regarding the molecular structure and function of the mysterin protein, with an emphasis on the perspective of MMD research.<\/jats:p>","DOI":"10.1093\/jb\/mvae020","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T03:34:21Z","timestamp":1708486461000},"page":"495-505","source":"Crossref","is-referenced-by-count":9,"title":["Molecular structure and function of mysterin\/RNF213"],"prefix":"10.1093","volume":"175","author":[{"given":"Daisuke","family":"Morito","sequence":"first","affiliation":[{"name":"Showa University School of Medicine Department of Biochemistry, , Hatanodai 1-5-8, Shinagawa, Tokyo 142-0064, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,2,20]]},"reference":[{"key":"2024050904260562600_ref1","article-title":"Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development","volume":"6","author":"Liu","year":"2011","journal-title":"PLoS One"},{"key":"2024050904260562600_ref2","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/jhg.2010.132","article-title":"A genome-wide association study identifies RNF213 as the first Moyamoya disease gene","volume":"56","author":"Kamada","year":"2011","journal-title":"J. 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