CALHM1 was identified by a tissue-specific gene expression profiling approach[2] that screened for genes located on susceptibility loci for late-onset Alzheimer's disease (AD) and that are preferentially expressed in the hippocampus,[1] a brain region affected early in AD. CALHM1 is a plasma membrane calcium-permeable ion channel regulated by voltage and extracellular calcium levels.[3] The exact function of CALHM1 in the brain is not completely understood, but studies have shown that CALHM1 controls neuronal intracellular calcium homeostasis and signaling, as well as calcium-dependent neuronal excitability and memory in mouse models.[3][4][5] Recent data have also shown that CALHM1 might facilitate the proteolytic degradation of the cerebral amyloid beta peptide, a culprit in AD pathogenesis.[6]
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Lv RJ, He JS, Fu YH, Shao XQ, Wu LW, Lu Q, Jin LR, Liu H (Apr 2011). "A polymorphism in CALHM1 is associated with temporal lobe epilepsy". Epilepsy & Behavior. 20 (4): 681–5. doi:10.1016/j.yebeh.2011.02.007. PMID21439911.