integral membrane protein 2B
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A ITM2B gene provides instructions for producing a protein called the integral membrane protein 2B (ITM2B), which is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and in keeping cells from growing and dividing too fast or in an uncontrolled way (suppressing tumour formation). Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein, which is produced by the APP gene. Not much is known about amyloid precursor protein function, but it is thought to be involved in nerve cell function in the brain in early development. Processing this protein creates different forms of the protein that can carry out various functions. Research suggests that the ITM2B protein is also involved in preventing (inhibiting) a form of the amyloid precursor protein from accumulating in the body's cells and tissues.
Normal function
A ITM2B gene provides instructions for producing a protein called the integral membrane protein 2B (ITM2B), which is found in all tissues. The function of the ITM2B protein is unclear. It is thought to play a role in triggering the self-destruction of cells (apoptosis) and in keeping cells from growing and dividing too fast or in an uncontrolled way (suppressing tumour formation). Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein, which is produced by the APP gene. Not much is known about amyloid precursor protein function, but it is thought to be involved in nerve cell function in the brain in early development. Processing this protein creates different forms of the protein that can carry out various functions. Research suggests that the ITM2B protein is also involved in preventing (inhibiting) a form of the amyloid precursor protein from accumulating in the body's cells and tissues.
Conditions referring to this gene or chromosome
Other names
ABRI
BRI2
BRICD2B
E25B
ITM2B_HUMAN
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Leitura adicional e referências
- integral membrane protein 2B; MedlinePlus, National Library of Medicine.
- Fotinopoulou A, Tsachaki M, Vlavaki M, Poulopoulos A, Rostagno A, Frangione B, Ghiso J, Efthimiopoulos S. BRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) production. J Biol Chem. 2005 Sep 2;280(35):30768-72. doi: 10.1074/jbc.C500231200. Epub 2005 Jul 18.
- Ghiso J, Rostagno A, Tomidokoro Y, Lashley T, Bojsen-Moller M, Braendgaard H, Plant G, Holton J, Lal R, Revesz T, Frangione B. Genetic alterations of the BRI2 gene: familial British and Danish dementias. Brain Pathol. 2006 Jan;16(1):71-9. doi: 10.1111/j.1750-3639.2006.tb00563.x.
- Kim J, Miller VM, Levites Y, West KJ, Zwizinski CW, Moore BD, Troendle FJ, Bann M, Verbeeck C, Price RW, Smithson L, Sonoda L, Wagg K, Rangachari V, Zou F, Younkin SG, Graff-Radford N, Dickson D, Rosenberry T, Golde TE. BRI2 (ITM2b) inhibits Abeta deposition in vivo. J Neurosci. 2008 Jun 4;28(23):6030-6. doi: 10.1523/JNEUROSCI.0891-08.2008.
- Revesz T, Ghiso J, Lashley T, Plant G, Rostagno A, Frangione B, Holton JL. Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol. 2003 Sep;62(9):885-98. doi: 10.1093/jnen/62.9.885.
- Revesz T, Holton JL, Lashley T, Plant G, Frangione B, Rostagno A, Ghiso J. Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies. Acta Neuropathol. 2009 Jul;118(1):115-30. doi: 10.1007/s00401-009-0501-8. Epub 2009 Feb 19.
- Rostagno A, Revesz T, Lashley T, Tomidokoro Y, Magnotti L, Braendgaard H, Plant G, Bojsen-Moller M, Holton J, Frangione B, Ghiso J. Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. J Biol Chem. 2002 Dec 20;277(51):49782-90. doi: 10.1074/jbc.M206448200. Epub 2002 Oct 17.
- Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G, Ghiso J. A stop-codon mutation in the BRI gene associated with familial British dementia. Nature. 1999 Jun 24;399(6738):776-81. doi: 10.1038/21637.
- Vidal R, Revesz T, Rostagno A, Kim E, Holton JL, Bek T, Bojsen-Moller M, Braendgaard H, Plant G, Ghiso J, Frangione B. 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. 2000 Apr 25;97(9):4920-5. doi: 10.1073/pnas.080076097.
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