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'''Integral membrane protein 2B''' ('''ITM2B''' or '''BRI2''') is a [[protein]] that in humans is encoded by the ''ITM2B'' [[gene]].<ref name="pmid9795190">{{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 | pmc = | doi =10.1016/S0378-1119(98)00354-0 }}</ref><ref name="entrez">{{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| accessdate = }}</ref> | |||
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''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== | ==References== | ||
{{reflist | {{reflist}} | ||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Ernst B, Dalby MA, Dalby A |title=Luria testing in demented patients. |journal=Acta Neurol. Scand. |volume=46 |issue= |pages= Suppl 43:97–8 |year= 1970 |pmid= 5466275 |doi=10.1111/j.1600-0447.1970.tb01106.x }} | ||
*{{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 }} | |||
*{{cite journal | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | *{{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 | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | | *{{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 | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | *{{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 }} | ||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene.[1][2]
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
- ↑ Pittois K, Deleersnijder W, Merregaert J (Nov 1998). "cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B". Gene. 217 (1–2): 141–9. doi:10.1016/S0378-1119(98)00354-0. PMID 9795190.
- ↑ "Entrez Gene: ITM2B integral membrane protein 2B".
Further reading
- Rostagno A, Tomidokoro Y, Lashley T, et al. (2005). "Chromosome 13 dementias". Cell. Mol. Life Sci. 62 (16): 1814–25. doi:10.1007/s00018-005-5092-5. PMID 15968464.
- Ernst B, Dalby MA, Dalby A (1970). "Luria testing in demented patients". Acta Neurol. Scand. 46: Suppl 43:97–8. doi:10.1111/j.1600-0447.1970.tb01106.x. PMID 5466275.
- Vidal R, Frangione B, Rostagno A, et al. (1999). "A stop-codon mutation in the BRI gene associated with familial British dementia". Nature. 399 (6738): 776–81. doi:10.1038/21637. PMID 10391242.
- Vidal R, Revesz T, Rostagno A, et al. (2000). "A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred". Proc. Natl. Acad. Sci. U.S.A. 97 (9): 4920–5. doi:10.1073/pnas.080076097. PMC 18333. PMID 10781099.
- Hu RM, Han ZG, Song HD, et al. (2000). "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning". Proc. Natl. Acad. Sci. U.S.A. 97 (17): 9543–8. doi:10.1073/pnas.160270997. PMC 16901. PMID 10931946.
- Fleischer A, Ayllón V, Dumoutier L, et al. (2002). "Proapoptotic activity of ITM2B(s), a BH3-only protein induced upon IL-2-deprivation which interacts with Bcl-2". Oncogene. 21 (20): 3181–9. doi:10.1038/sj.onc.1205464. PMID 12082633.
- Austen B, el-Agnaf O, Nagala S, et al. (2003). "Properties of neurotoxic peptides related to the BRI gene". Biochem. Soc. Trans. 30 (4): 557–9. doi:10.1042/BST0300557. PMID 12196136.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Akiyama H, Kondo H, Arai T, et al. (2004). "Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain". Acta Neuropathol. 107 (1): 53–8. doi:10.1007/s00401-003-0783-1. PMID 14586629.
- Choi SI, Vidal R, Frangione B, Levy E (2004). "Axonal transport of British and Danish amyloid peptides via secretory vesicles". FASEB J. 18 (2): 373–5. doi:10.1096/fj.03-0730fje. PMID 14656991.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Matsuda S, Giliberto L, Matsuda Y, et al. (2005). "The familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta production". J. Biol. Chem. 280 (32): 28912–6. doi:10.1074/jbc.C500217200. PMID 15983050.
- Fotinopoulou A, Tsachaki M, Vlavaki M, et al. (2005). "BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production". J. Biol. Chem. 280 (35): 30768–72. doi:10.1074/jbc.C500231200. PMID 16027166.
- Ghiso J, Rostagno A, Tomidokoro Y, et al. (2006). "Genetic alterations of the BRI2 gene: familial British and Danish dementias". Brain Pathol. 16 (1): 71–9. doi:10.1111/j.1750-3639.2006.tb00563.x. PMID 16612984.
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