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Positive Control: NIH/3T3 cell lysate, Raji cell lysate, MCF-7 cell lysate, Daudi cell lysate, mouse liver tissue lysate, rat liver tissue lysate, MCF-7, human small intestine tissue, mouse testis tissue.
Subcellular Location: Endoplasmic reticulum, Endoplasmic reticulum membrane, Golgi apparatus membrane, Cell membrane, Early endosome, Early endosome membrane, Cytoplasmic granule, growth cone, neuron projection, axon, synapse.
Presenilin1 was initially identified a marker of susceptibility to early-onset Alzheimer's disease. In addition to PEN2, nicastrin and APH-1, Presenilin1 forms the -gamma-secretase protein complex, a membrane-bound aspartyl protease that can cleave certain proteins at peptide bonds buried within the hydrophobic environment of the lipid bilayer. This cleavage is responsible for a key step in signaling from several cell-surface receptors and is thought to be required for the generation of the neurotoxic amyloid peptides that are central to the pathogenesis of Alzheimer's disease. Like the tumor necrosis factor-alpha-converting enzyme (TACE) and the beta-site cleavage enzyme (BACE) protease families, -gamma-secretase will cleave the amyloid precursor protein (APP), but within the intramembrane region of APP, resulting in either the non-toxic p3 (from the alpha and -gamma cleavage site) or the toxic Abeta amyloid peptide (from the beta and -gamma cleavage site). It is thought that accumulation of the Abeta peptide is the precursor to Alzheimer's disease. Multiple isoforms of presenilin1 are known to exist.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alzheimer Disease 3; Minilin; Presenilin-1; presenilin1; Protein S182; PS-1; S182 protein; Senilin 1
基因别名: AD3; Ad3h; FAD; PS-1; PS1; PSEN1; PSNL1; S182
UniProt ID: (Human) P49768, (Rat) P97887
Entrez Gene ID: (Human) 5663, (Rat) 29192, (Mouse) 19164