Automated description from the Alliance of Genome Resources (Release 8.3.0)
Enables aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including protein catabolic process at postsynapse; regulation of macromolecule metabolic process; and skin morphogenesis. Acts upstream of or within several processes, including hemopoiesis; nervous system development; and regulation of apoptotic signaling pathway. Located in several cellular components, including Z disc; ciliary basal body; and mitochondria-associated endoplasmic reticulum membrane contact site. Part of gamma-secretase complex. Is active in glutamatergic synapse. Is expressed in central nervous system; late tubule; and sensory organ. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; Alzheimer's disease 4; breast cancer; and dilated cardiomyopathy 1V. Orthologous to human PSEN2 (presenilin 2).
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