present in Gene: SETX
present in Chromosome: 9
Position on Chromosome: 132327511
Alleles of this Variant: G/A
rs121434376 in
SETX gene and
Movement Disorders
PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
PMID 15732101 2005 Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
PMID 14770181 2004 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).