ITM2B
Sign in to saveAlso known as ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.
Gene data
ITM2B- Name
- integral membrane protein 2B
- Type
- protein-coding
- Aliases
- ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2
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].
via MyGene.info
Gene · Ensembl
integral membrane protein 2B
- Symbol
- ITM2B
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 13:48,232,612-48,270,357
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 7388
- genomic end
- 48270357
- exact match
- identifiers.org/ncbigene/9445
- genomic start
- 48232612
- cytogenetic location
- 13q14.2
Sources (4)
via Wikidata · CC0
~1 min read
Article
2 sectionsContents
- References
- Further reading
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.
ITM2B or BRI2 is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's.