Aliases for PSENEN Gene
External Ids for PSENEN Gene
Previous GeneCards Identifiers for PSENEN Gene
Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for PSENEN Gene
PSENEN (Presenilin Enhancer Gamma Secretase Subunit) is a Protein Coding gene. Diseases associated with PSENEN include acne inversa, familial, 2 and autoinflammation, antibody deficiency, and immune dysregulation syndrome. Among its related pathways are Signaling by GPCR and Infectious disease. An important paralog of this gene is ENSG00000188223.
UniProtKB/Swiss-Prot for PSENEN Gene
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.
gamma-secretase is a multi-subunit internal protease that cleaves within the transmembrane domain of its substrates. It is an integral membrane protein and minimally consists of four proteins; presenilin, nicastrin, APH-1 and PEN-2. gamma-secretase is involved in the processing of Notch.