GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSIGMAR1
Other namesSRBP; OPRS1; SR-BP1
Gene nameSigma non-opioid intracellular receptor 1
Gene inheritanceFALS genes
Discovery methodCandidate gene
Category 
Chromosome9p13
GRCh37 (hg19)Chr9:34634719-34637768 ( -)
GRCh38 (hg38)Chr9:34634722-34637826(-)
BackgroundMutations in SIGMAR1 affect FUS and TDP-43 localisation
Result 
Mutations2
Patients1

BIOINFORMATICS

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

ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Al-Saif2011A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosisFull_Paper
Kim2014Mutations in UBQLN2 and SIGMAR1 genes are rare in Korean patients with amyotrophic lateral sclerosisFull_Paper