In this article, we reviewed the research of Mfsd2a in nervous system diseases, such as intracranial hemorrhage (ICH), Alzheimer’s disease (AD), sepsis associated encephalopathy (SAE), autosomal recessive primary microcephaly (MCPH), and intracranial tumor, aiming to provide a reference for the basic research and clinical application of Mfsd2a. The gene discussed is MFSD2A; the disease is autosomal recessive primary microcephaly.