ITM2B
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox gene}}
Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.{{cite journal |vauthors=Pittois K, Deleersnijder W, Merregaert J | title = cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B | journal = Gene | volume = 217 | issue = 1–2 | pages = 141–9 |date=Nov 1998 | pmid = 9795190 | doi =10.1016/S0378-1119(98)00354-0 }}{{cite web | title = Entrez Gene: ITM2B integral membrane protein 2B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9445}}
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.
References
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Further reading
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- {{cite journal |vauthors=Rostagno A, Tomidokoro Y, Lashley T, etal |title=Chromosome 13 dementias. |journal=Cell. Mol. Life Sci. |volume=62 |issue= 16 |pages= 1814–25 |year= 2005 |pmid= 15968464 |doi= 10.1007/s00018-005-5092-5 |s2cid=40812895 |pmc=11139122 }}
- {{cite journal |vauthors=Ernst B, Dalby MA, Dalby A |title=Luria testing in demented patients. |journal=Acta Neurol. Scand. |volume=46 |issue= S43|pages= Suppl 43:97–8 |year= 1970 |pmid= 5466275 |doi=10.1111/j.1600-0447.1970.tb01106.x |s2cid=221441989 }}
- {{cite journal |vauthors=Vidal R, Frangione B, Rostagno A, etal |title=A stop-codon mutation in the BRI gene associated with familial British dementia. |journal=Nature |volume=399 |issue= 6738 |pages= 776–81 |year= 1999 |pmid= 10391242 |doi= 10.1038/21637 |bibcode=1999Natur.399..776V |s2cid=34349437 }}
- {{cite journal |vauthors=Vidal R, Revesz T, Rostagno A, etal |title=A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 9 |pages= 4920–5 |year= 2000 |pmid= 10781099 |doi= 10.1073/pnas.080076097 | pmc=18333 |doi-access=free |bibcode=2000PNAS...97.4920V }}
- {{cite journal |vauthors=Hu RM, Han ZG, Song HD, etal |title=Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 17 |pages= 9543–8 |year= 2000 |pmid= 10931946 |doi= 10.1073/pnas.160270997 | pmc=16901 |bibcode=2000PNAS...97.9543H |doi-access=free }}
- {{cite journal |vauthors=Fleischer A, Ayllón V, Dumoutier L, etal |title=Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2. |journal=Oncogene |volume=21 |issue= 20 |pages= 3181–9 |year= 2002 |pmid= 12082633 |doi= 10.1038/sj.onc.1205464 |doi-access= |s2cid=27728145 }}
- {{cite journal |vauthors=Austen B, el-Agnaf O, Nagala S, etal |title=Properties of neurotoxic peptides related to the BRI gene. |journal=Biochem. Soc. Trans. |volume=30 |issue= 4 |pages= 557–9 |year= 2003 |pmid= 12196136 |doi=10.1042/BST0300557 }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Akiyama H, Kondo H, Arai T, etal |title=Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. |journal=Acta Neuropathol. |volume=107 |issue= 1 |pages= 53–8 |year= 2004 |pmid= 14586629 |doi= 10.1007/s00401-003-0783-1 |s2cid=20479606 }}
- {{cite journal |vauthors=Choi SI, Vidal R, Frangione B, Levy E |title=Axonal transport of British and Danish amyloid peptides via secretory vesicles. |journal=FASEB J. |volume=18 |issue= 2 |pages= 373–5 |year= 2004 |pmid= 14656991 |doi= 10.1096/fj.03-0730fje |doi-access=free |s2cid=11582717 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Matsuda S, Giliberto L, Matsuda Y, etal |title=The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production. |journal=J. Biol. Chem. |volume=280 |issue= 32 |pages= 28912–6 |year= 2005 |pmid= 15983050 |doi= 10.1074/jbc.C500217200 |doi-access= free}}
- {{cite journal |vauthors=Fotinopoulou A, Tsachaki M, Vlavaki M, etal |title=BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. |journal=J. Biol. Chem. |volume=280 |issue= 35 |pages= 30768–72 |year= 2005 |pmid= 16027166 |doi= 10.1074/jbc.C500231200 |doi-access= free }}
- {{cite journal |vauthors=Ghiso J, Rostagno A, Tomidokoro Y, etal |title=Genetic alterations of the BRI2 gene: familial British and Danish dementias. |journal=Brain Pathol. |volume=16 |issue= 1 |pages= 71–9 |year= 2006 |pmid= 16612984 |doi=10.1111/j.1750-3639.2006.tb00563.x |pmc=8095812 }}
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{{Amyloidosis}}
{{gene-13-stub}}