PSENEN (AAH09575, 1 a.a. ~ 101 a.a) full-length recombinant protein with GST tag. The sequence is MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRS AVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP
Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimers disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants.
Pathway
Activated NOTCH1 Transmits Signal to the Nucleus; Alzheimers disease; Cell death signalling via NRAGE, NRIF and NADE; Constitutive Signaling by NOTCH1 PEST Domain Mutants
Citations
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