The ATPase plasma membrane Ca2+ transporting 1 gene (ATP2B1; MIM: 108731), maps to chromosomal locus 12q21.33 and encodes the plasma membrane calcium-transporting ATPase 1 (PMCA1), which removes Ca2+ ions from eukaryotic cells to maintain low cytoplasmic Ca2+ levels, which are essential for normal cellular function. Intracellular Ca2+ homeostasis is particularly crucial for the central nervous system, as it plays a central role in processes ranging from neuronal development and synaptogenesis to neurotransmission and synaptic plasticity [1,2].
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