charged multivesicular body protein 2B
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L CHMP2B gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it appears to be essential for the survival of nerve cells (neurons).
Normal function
L CHMP2B gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it appears to be essential for the survival of nerve cells (neurons).
Charged multivesicular body protein 2B forms one part (subunit) of a group of proteins known as the ESCRT-III complex. This complex helps transport other proteins from the cell membrane to the interior of the cell, a process known as endocytosis. In particular, the ESCRT-III complex is involved in the endocytosis of proteins that need to be broken down (degraded) by the cell. The complex helps sort these proteins into structures called multivesicular bodies (MVBs), which deliver them to lysosomes. Lysosomes are compartments within cells that digest and recycle many different types of molecules.
Charged multivesicular body protein 2B is regulated by a segment at one end of the protein known as the C-terminal domain. This domain usually keeps the protein turned off (inactive). The inactive protein is unable to interact with other subunits of the ESCRT-III complex, which prevents the complex from forming when it is not needed. The C-terminal domain also plays an important role in disassembling the ESCRT-III complex through its interaction with a protein called vacuolar protein sorting 4 (Vps4).
Conditions referring to this gene or chromosome
Altri nomi
CHM2B_HUMAN
CHMP family, member 2B
CHMP2.5
chromatin modifying protein 2B
DMT1
hVps2-2
vacuolar protein sorting-associated protein 2-2
VPS2 homolog B
VPS2-2
VPS2B
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Ulteriori letture e riferimenti
- charged multivesicular body protein 2B; MedlinePlus, National Library of Medicine.
- Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P. Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Dis Assoc Disord. 2010 Oct-Dec;24(4):397-401. doi: 10.1097/WAD.0b013e3181df20c7.
- Lee JA, Gao FB. ESCRT, autophagy, and frontotemporal dementia. BMB Rep. 2008 Dec 31;41(12):827-32. doi: 10.5483/bmbrep.2008.41.12.827.
- Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J. Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener Dis. 2006;3(3):129-33. doi: 10.1159/000094771.
- Skibinski G, Parkinson NJ, Brown JM, Chakrabarti L, Lloyd SL, Hummerich H, Nielsen JE, Hodges JR, Spillantini MG, Thusgaard T, Brandner S, Brun A, Rossor MN, Gade A, Johannsen P, Sorensen SA, Gydesen S, Fisher EM, Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet. 2005 Aug;37(8):806-8. doi: 10.1038/ng1609. Epub 2005 Jul 24.
- Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M; FReJA Consortium; Van Broeckhoven C, Collinge J, Brandner S, Futter C, Isaacs AM. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10.
- Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. The role of CHMP2B in frontotemporal dementia. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12. doi: 10.1042/BST0370208.
- van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22.
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