GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneVPS54
Other namesHCC8; SLP-8p; VPS54L; hVps54L; VPS54
Gene namevacuolar protein sorting 54 homolog (S. cerevisiae)
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome2p13-p14
GRCh37 (hg19)Chr2:64119667-64246214 ( -)
GRCh38 (hg38)Chr2:63892146-64019355(-)
BackgroundTo test the involvement of VPS54 genetic variants in ALS susceptibility
ResultIt seems unlikely that VPS54 has a common genetic role in the pathogenesis of ALS. Nevertheless, we cannot exclude that rare ALS cases could be caused by a genetic defect in VPS54.
Mutations0
Patients0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Corrado2010VPS54 genetic analysis in ALS Italian cohortFull_Paper
Meisler2008Thioredoxin reductase 1 haplotypes modify familial amyotrophic lateral sclerosis onsetFull_Paper