GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSMN2
Other namesSMNC; BCD541; MGC5208; C-BCD541; FLJ76644; MGC20996
Gene namesurvival of motor neuron 2, centromeric
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryALTERED DNA/RNA PROCESSING
Chromosome5q13.2
Genomic CoordinatesChr5:69345350-69373422 ( +)
BackgroundComponent of an import snRNP complex, interact with with several spliceosomal snRNP core Sm proteins. SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity.
ResultSMN genotypes which reduce SMN protein levels associated with SALS
Total Mutations0
Total Affected0

BIOINFORMATICS

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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
Gamez2002Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patientsFull_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