| 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 |
|
| 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) |









































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