Variant: rs121434378 

    present in Gene: SETX
    present in Chromosome: 9
    Position on Chromosome: 132283403
    Alleles of this Variant: C/T

rs121434378 in SETX gene and Amyotrophic Lateral Sclerosis 4, Juvenile PMID 24105744 2013 A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.

PMID 15106121 2004 To identify the molecular basis of ALS4, we tested 19 genes within the ALS4 interval and detected missense mutations (T3I, L389S, and R2136H) in the Senataxin gene (SETX).

PMID 14770181 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

PMID 24244371 2013 Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

PMID 21190393 2011 Senataxin mutations and amyotrophic lateral sclerosis.