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presenilín-1
Č. záznamu d053764 Dátum 06.06.2025 Typ M - MESH Tematický termín presenilín-1 MDT D12.776.543.696.500 Poznámka Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans. predmetové heslo
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