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presenilin


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A family of multi-pass transmembrane proteins (467 aa) that are localized to the nuclear envelope and are the catalytic aspartyl peptidase core of γ-*secretase, but also interact with catenins. In Drosophila, presenilins have a role in notch signalling. Mutations in the gene encoding PS1 are associated with 25% of cases of early-onset Alzheimer's disease (type 3). Presenilin enhancer 2 (PEN2, 101 aa) is another component of the γ-secretase complex. Presenilin-associated rhomboid-like protein (PARL, 379 aa) seems to be involved in suppression of apoptosis in lymphocytes and neurons.

Subjects: Medicine and Health.


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