Automated description from the Alliance of Genome Resources (Release 9.0.0)
Enables aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including positive regulation of receptor recycling; protein catabolic process at postsynapse; and regulation of ubiquitin-dependent protein catabolic process. 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. 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).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.