GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSMN1
Other namesSMA; SMN; SMA1; SMA2; SMA3; SMA4; SMA@; SMNT; BCD541; T-BCD541
Gene namesurvival of motor neuron 1, telomeric
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryALTERED DNA/RNA PROCESSING
Chromosome5q13.2
Genomic CoordinatesChr5:70220768-70248839 ( +)
BackgroundDeletions and mutations of SMN genes cause spinal muscular atrophy
ResultSMN genotypes which reduce SMN protein levels associated with sporadic ALS
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  Life Science DB(Japan)  ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB

ANIMAL MODELS

                               

KEY PUBLICATIONS (6)

First_AuthorYearTitlePaper
Corcia2002Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosisFull_Paper
Corcia2002SMN1 gene study in three families in which ALS and spinal muscular atrophy co-existFull_Paper
Corcia2006SMN1 gene, but not SMN2, is a risk factor for sporadic ALSFull_Paper
Veldink2001Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSFull_Paper
Veldink2005SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALSFull_Paper
Zou2007SMN protects cells against mutant SOD1 toxicity by increasing chaperone activityFull_Paper