Psen1 - presenilin 1 Gene

Enables aspartic-type endopeptidase activity and Cadherin binding activity. Contributes to aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including positive regulation of receptor recycling; regulation of cellular protein metabolic process; and skin morphogenesis. Acts upstream of or within with a positive effect on L-glutamate import across plasma membrane; gene expression; and sequestering of calcium ion. Acts upstream of or within several processes, including animal organ development; nervous system development; and regulation of protein kinase activity. Located in several cellular components, including ciliary rootlet; dendritic shaft; and growth cone. Part of gamma-secretase complex. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); Pick's disease; dilated cardiomyopathy 1U; frontotemporal dementia; and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). [provided by Alliance of Genome Resources, Apr 2022]