Psn - Presenilin
Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in several processes, including amyloid-beta formation; learning or memory; and membrane protein proteolysis. Located in apical plasma membrane; late endosome; and recycling endosome. Part of gamma-secretase complex. Is expressed in several structures, including anterior-posterior subdivision of organism; female germline cell; imaginal disc; pigment cell; and wing vein. Used to study Alzheimer's disease; Alzheimer's disease 3; dilated cardiomyopathy; and early-onset Parkinson's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); breast cancer; dilated cardiomyopathy (multiple); frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1) and PSEN2 (presenilin 2). [provided by Alliance of Genome Resources, Nov 2024]
NCBI Orthologs
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