Presenilin 1 / PS-1 Rabbit Polyclonal Antibody

功能

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined.

背景文献

1. Arber C. et. al. Familial Alzheimer\'s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis. Cell Rep. 2021 Jan

2. Kim YE. et. al. PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer\'s disease. Sci Rep. 2020 Feb

亚细胞定位

Endoplasmic reticulum, Endoplasmic reticulum membrane, Golgi apparatus membrane, Cell membrane, Early endosome, Early endosome membrane, Cytoplasmic granule, growth cone, neuron projection, axon, synapse.

UNIPROT

SwissProt: P49768 Human

SwissProt: P49769 Mouse

SwissProt: P97887 Rat

别名