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In patients with Alzheimer's disease (autosomal dominant hereditary), mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP) can be found. The majority of these cases carry mutant presenilin genes. An important part of the disease process in Alzheimer's disease is the accumulation of Amyloid beta (Aβ
19165 Ensembl ENSG00000143801 ENSMUSG00000010609 UniProt P49810 Q61144 RefSeq (mRNA) NM_000447 NM_012486 NM_001128605 NM_011183 RefSeq (protein) NP_000438 NP_036618 NP_001122077 NP_035313 Location (UCSC) Chr 1: 226.87 – 226.93 Mb Chr 1: 180.05 – 180.09 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Presenilin-2 is a protein that (in humans) is encoded by the PSEN2 gene. Function ...
Alzheimer's disease (AD) has been identified as a proteopathy: a protein misfolding disease due to the accumulation of abnormally folded amyloid beta (Aβ) protein in the brain. [1] Amyloid beta is a short peptide that is an abnormal proteolytic byproduct of the transmembrane protein amyloid-beta precursor protein (APP), whose function is ...
A protein precursor, also called a pro-protein or pro-peptide, is an inactive protein (or peptide) that can be turned into an active form by post-translational modification, such as breaking off a piece of the molecule or adding on another molecule. The name of the precursor for a protein is often prefixed by pro-.
A carboxypeptidase (EC number 3.4.16 - 3.4.18) is a protease enzyme that hydrolyzes (cleaves) a peptide bond at the carboxy-terminal (C-terminal) end of a protein or peptide. This is in contrast to an aminopeptidases, which cleave peptide bonds at the N-terminus of proteins. Humans, animals, bacteria and plants contain several types of ...
Polycarbonate is commonly used in eye protection, as well as in other projectile-resistant viewing and lighting applications that would normally indicate the use of glass, but require much higher impact-resistance. Polycarbonate lenses also protect the eye from UV light.
Amyloid-beta precursor protein (APP) is an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. It functions as a cell surface receptor [ 5 ] and has been implicated as a regulator of synapse formation , [ 6 ] neural plasticity , [ 7 ] antimicrobial activity, [ 8 ] and iron export . [ 9 ]
The most well-known substrate of gamma secretase is amyloid precursor protein, a large integral membrane protein that, when cleaved by both gamma and beta secretase, produces a short 37-43 [verification needed] amino acid peptide called amyloid beta whose abnormally folded fibrillar form is the primary component of amyloid plaques found in the ...