Gene: SETX

Alternate names for this Gene: ALS4|AOA2|SCAN2|SCAR1|Sen1|bA479K20.2

Gene Summary: This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4).

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.13

Description of this Gene: senataxin

Type of Gene: protein-coding

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.

PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

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 21438761 2011 Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

PMID 24244371 2013 We further found that L389S senataxin interacts with other proteins containing regions of conserved homology with the BCYRN1 reverse complement-encoded peptide, suggesting that such aberrant protein interactions may contribute to L389S ALS4 disease pathogenesis.

PMID 22088787 2012 SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

PMID 21576111 2011 Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.

PMID 24814856 2014 Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

PMID 19141356 2009 Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

PMID 17159128 2006 Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

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).

rs116205032 in SETX gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 16644229 2006 Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.

PMID 23786967 2013 Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.

PMID 16717225 2006 Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

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

PMID 23941260 2013 SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

PMID 17096168 2007 In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

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 23566282 2013 A new SETX mutation producing AOA2 in two siblings.

PMID 15106121 2004 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

PMID 22088787 2012 SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

PMID 21438761 2011 Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

PMID 21576111 2011 Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.

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 19141356 2009 Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.

PMID 24814856 2014 Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.

PMID 19696032 2009 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

PMID 17159128 2006 Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.