Moyamoya disease (MMD) is a cerebrovascular disorder with unknown pathogenesis that features abnormal blood vessel formation with stenosis or an occlusion in the circle of Willis. RNF213 is a susceptible gene for Moyamoya disease (MMD), which encodes a huge protein with AAA+ATPase (ATPase associated with various cellular activities) and RING domains. The molecular mechanisms of MMD are mainly unknown. Elucidation of the RNF213 functions might lead to the understanding of MMD pathology. In this review, we discuss the current topics on RNF213 ubiquitination activity and the regulation and point out some of the questions that remain unanswered.
