PSENEN : presenilin enhancer, gamma-secretase subunit

Description

The PSENEN (presenilin enhancer, gamma-secretase subunit) is a protein-coding gene located on chromosome 19.

The PSENEN gene provides instructions for making a protein called gamma-secretase subunit PEN-2 (shortened to PEN-2). This protein is one part (subunit) of a complex called gamma- (γ-) secretase. PEN-2 processes another subunit of the complex, presenilin 1, which is produced from the PSEN1 gene. This step is necessary for the γ-secretase complex to be functional.The γ-secretase complex is located in the membrane that surrounds cells, where it cuts apart (cleaves) many different proteins that span the cell membrane (transmembrane proteins). This cleavage is an important step in several chemical signaling pathways that transmit signals from outside the cell into the nucleus. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function.

PSENEN encodes a protein essential for the function of the gamma-secretase complex, an enzyme that cleaves transmembrane proteins. Gamma-secretase is involved in important signaling pathways, including Notch and Wnt signaling, which regulate cell development, differentiation, and other processes. PSENEN specifically modulates the activity of the gamma-secretase complex by contributing to the processing and activation of presenilin, a core component of the complex. This complex plays a critical role in regulating downstream processes by processing key regulatory proteins and modulating cytosolic CTNNB1 levels. These functions are essential for normal cellular processes, including cell division, differentiation, and immune function.

PSENEN is also known as ACNINV2, MDS033, MSTP064, PEN-2, PEN2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing