Gene Symbol | ITM2B |
Entrez Gene ID | 9445 |
Full Name | integral membrane protein 2B |
Synonyms | ABRI,BRI,BRI2,BRICD2B,E25B,E3-16,FBD,RDGCA,imBRI2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Dementia, familial British, 176500 (3); Dementia, familial Danish, 117300 (3); ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3) |