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ITM2B

Official Full Name
integral membrane protein 2B
Background
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.
Synonyms
ITM2B; integral membrane protein 2B; BRI; E3 16; E25B; ABRI; ABri/ADan amyloid peptide; BRI 2; BRI2; BRICD 2B; BRICD2B; BRICHOS domain containing 2B; FBD; ITM 2B; ITM2B_HUMAN; Protein E25B; Transmembrane protein BRI; OTTHUMP00000018394; OTTHUMP00000018395; E3-16; BRI, FBD, ABRI, BRI2, E25B, E3-16, imBRI2, BRICD2B, ITM2B; transmembrane protein E3-16; putative transmembrane protein E3-16

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