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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
Background 
Result 
Total Mutations2
Total Affected0

BIOINFORMATICS

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GeneMANIA   AmiGO   Gene Wiki   Wolfram Alpha   Ensembl   NCBI   WikiGenes   Life Science DB(Japan)         GeneNetwork

KEY PUBLICATIONS (3)

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 1999-2013 King's College London, The Institute of Psychiatry | Rewritten + Version 3.0 by Olubunmi Abel | Project coordinated by Prof Ammar Al-Chalabi