The biological functions of RNF213 shown in the current literature all point towards specific pathological characteristics of MMD—lipid metabolism (could contribute to the stenosis/occlusion of the terminal portion of the carotid arteries), angiogenesis and regulation of the endothelial barrier (formation of the moyamoya vessels), susceptibility to ischemic injury, and cerebral blood flow regulation (impaired recovery post-occlusion of the carotid arteries). The gene discussed is RNF213; the disease is multiminicore myopathy.