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Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia.
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蛋白别名: ABri/ADan amyloid peptide; Bri; BRICHOS domain containing 2B; imBRI2; Immature BRI2; Integral membrane protein 2B; OTTHUMP00000018394; Protein E25B; RP11-196P14.1; Transmembrane protein BRI
基因别名: ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2; ITM2B; RDGCA
UniProt ID: (Human) Q96B24
Entrez Gene ID: (Human) 9445