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. [provided by RefSeq, Oct 2009]
Function
ATP binding; beta-amyloid binding;
Synonyms
ITM2B; integral membrane protein 2B; BRI; E3 16; E25B; ABri/ADan amyloid peptide; transmembrane protein BRI; BRICHOS domain containing 2B; FBD; ABRI; BRI2; E3-16; BRICD2B;
Citations
Publication ()
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