Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 8.3.0)

Enables aspartic endopeptidase activity, intramembrane cleaving and cadherin binding activity. Involved in several processes, including protein catabolic process at postsynapse; regulation of macromolecule metabolic process; and skin morphogenesis. Acts upstream of or within with a positive effect on L-glutamate import across plasma membrane and gene expression. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; nervous system development; and regulation of protein kinase activity. Located in several cellular components, including ciliary rootlet; dendritic shaft; and mitochondria-associated endoplasmic reticulum membrane contact site. Part of gamma-secretase complex. Is active in glutamatergic synapse. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and hemolymphoid system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1).

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Gene Ontology Evidence Code Abbreviations:

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