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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneCHMP2B
Other namesDMT1; VPS2B; VPS2-2; CHMP2.5; DKFZp564O123; CHMP2B
Gene namechromatin modifying protein 2B
Gene inheritance categorySALS genes
Category 
Chromosome3p12.1
Genomic CoordinatesChr3:87276413-87304698 ( +)
Background 
Result 
Total Mutations2
Total Affected0

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ANIMAL MODELS

                               

KEY PUBLICATIONS (4)

First_AuthorYearTitlePaper
Blair2008CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosisFull_Paper
Cox2010Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)Full_Paper
Parkinson2006ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)Full_Paper
van Blitterswijk2012Genetic overlap between apparently sporadic motor neuron diseasesFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 6375112687302948 Parkinson2006GRCh37ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
 87289899 Parkinson2006GRCh37ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
        
 
© Copyright 2007-2014 King's College London, The Institute of Psychiatry | Rewritten + Version 4.0 by Olubunmi Abel | Project coordinated by Prof Ammar Al-Chalabi