GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneGRN
Other namesGEP; GP88; PEPI; PGRN; PCDGF; GRN
Gene nameprogranulin
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome17q21.32
Genomic CoordinatesChr17:42422491-42430470(+)
Background 
Result 
Total Mutations0
Total Affected0

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence    Uniprot
iHop  Pathway  GeneTest  ALS review                  Animal models
GeneMANIA  AmiGO  Gene Wiki  Wolfram Alpha  Ensembl  NCBI  WikiGenes    ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB

ANIMAL MODELS

                               

KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Boeve2012Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Full_Paper
Del Bo2009No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohortFull_Paper
Sleegers2008Progranulin genetic variability contributes to amyotrophic lateral sclerosisFull_Paper