The PSENEN gene (PSENEN is the acronym for Presenilin Enhancer, Gamma-Secretase Subunit) is a protein-coding gene located on chromosome 19q13.12. PSENEN encodes PEN2 a protein required for the activity and accumulation of the gamma-secretase complex, an endoprotease.
PEN2 represents an essential subunit of the gamma-secretase complex, an internal protease that catalyzes intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex is composed of several subunits that cleaves substrates within the transmembrane domain. This complex plays a role in the Notch and Wnt signaling cascades and in the regulation of downstream processes. It consists of four proteins
- Presenilin
- Nicastrin
- APH-1 and
- PEN2.