Anti-Presenilin 1/PS-1 (phospho S310) antibody [EP2001Y]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Presenilin 1 often referred to as PS-1 is a protein with an important role in the function of gamma-secretase a multi-subunit protease complex. It weighs approximately 50 kDa and is widely expressed in different tissues especially in the brain. Presenilin 1 functions as part of the gamma-secretase complex which is responsible for processing several type I transmembrane proteins. This protein undergoes endoproteolytic processing to form an N-terminal and C-terminal fragment which are pivotal for its gamma-secretase activity.

Biological function summary

Presenilin 1 plays a fundamental role in the cleavage of amyloid precursor protein (APP) within the transmembrane domain. This cleavage results in the formation of amyloid-beta peptides which are of significant interest in neurobiology. Presenilin 1 is an integral component of the gamma-secretase complex that includes nicastrin APH-1 and PEN-2. This complex involvement underlines the enzyme's importance in cell signaling pathways and modulation of synaptic functions. The functionality at the synaptic level is particularly important given its expression pattern and involvement in neural processes.

Pathways

The action of presenilin 1 is closely linked to the Notch signaling pathway and the amyloidogenic pathway. Presenilin 1 facilitates the intramembrane cleavage of the Notch receptor releasing the Notch intracellular domain that translocates to the nucleus and affects gene transcription. The protein's role in processing APP into amyloid-beta peptides links it directly to Alzheimer's disease pathology. The protein Tax also a component of the gamma-secretase complex shows interdependencies in these pathways.

Associated diseases and disorders

Presenilin 1 holds significant relevance in Alzheimer's disease where mutations in its gene are associated with early-onset familial Alzheimer's. The production of amyloid-beta peptides through presenilin 1's interaction with APP is central to the disease's pathogenesis. Another disorder linked to presenilin 1 is Dilated Cardiomyopathy where presenilin mutations may affect calcium signaling in cardiac cells. In Alzheimer's the interaction between presenilin 1 and the amyloid-beta peptide protein is critical while in cardiac issues it's more about protein misfolding and signaling mishaps.