Psen1 - presenilin 1

Enables endopeptidase activity. Involved in several processes, including negative regulation of neuron apoptotic process; neural retina development; and proteolysis. Located in several cellular components, including cytoplasmic vesicle; lysosomal membrane; and sarcolemma. Part of protein-containing complex. Is integral component of presynaptic membrane. 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]