Genetic polymorphisms in the S1R gene have been associated with increased susceptibility to Alzheimer’s disease (AD), whereas loss-of-function mutations have been linked to the development of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), potentially through mechanisms such as impaired long-term potentiation observed in S1R KO models [85,86,87,88]. The gene discussed is TMBIM4; the disease is amyotrophic lateral sclerosis.