Tissue expression
Cell line expression
Protein structure
PSEN1
Presenilin 1AD3, FAD, PS1, S182
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. [provided by RefSeq, Aug 2008]
Top validated antibodies |
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Novus Biologicals | ![]() |
6 references | Monoclonal |
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Invitrogen Antibodies | ![]() |
8 references | Monoclonal |
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Proteintech Group | ![]() |
16 references | Polyclonal |
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Abcepta | ![]() |
1 references | Polyclonal |
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antibodies-online | ![]() |
4 references | Monoclonal |
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