PSEN2 : presenilin 2

Description

The PSEN2 (presenilin 2) is a protein-coding gene located on chromosome 1.

The PSEN2 gene provides instructions for making presenilin 2, a protein that helps process signals from the cell membrane to the nucleus, activating genes essential for cell growth and development. PSEN2 is particularly known for its role in processing amyloid precursor protein (APP), which is found throughout the body, especially in the brain. Working with other enzymes, PSEN2 cleaves APP into smaller pieces, including soluble amyloid precursor protein (sAPP), which seems to promote growth and may contribute to the formation of neurons, and amyloid beta peptide, whose functions are still being investigated.

Presenilin-2 (PSEN2) is a key component of the gamma-secretase complex, an enzyme that cleaves integral membrane proteins, including Notch receptors and amyloid-beta precursor protein (APP). PSEN2 acts as the catalytic subunit within this complex, but requires the presence of other components, such as nicastrin, APH1, and PEN2, to exhibit protease activity. Beyond its role in protein processing, PSEN2 may be involved in intracellular signaling and gene expression, potentially linking chromatin to the nuclear membrane. It also plays a role in the distribution of proteins within the cytoplasm. The complete PSEN2 protein acts as a calcium leak channel, facilitating the passive movement of calcium from the endoplasmic reticulum to the cytosol. This function is crucial for maintaining calcium homeostasis. Furthermore, PSEN2 regulates the connection between the mitochondria and the endoplasmic reticulum, influencing the exchange of calcium ions between these organelles.

PSEN2 is also known as AD3L, AD4, CMD1V, PS2, STM2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing