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Aliases for SETX Gene

Aliases for SETX Gene

  • Senataxin 2 3 4 5
  • Amyotrophic Lateral Sclerosis 4 Protein 3 4
  • SEN1 Homolog 3 4
  • SCAR1 3 4
  • ALS4 3 4
  • Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 2
  • Amyotrophic Lateral Sclerosis 4 2
  • Probable Helicase Senataxin 3
  • BA479K20.2 3
  • EC 3.6.4.- 4
  • KIAA0625 4
  • EC 3.6.1 61
  • AOA2 3

External Ids for SETX Gene

Previous HGNC Symbols for SETX Gene

  • ALS4
  • SCAR1

Previous GeneCards Identifiers for SETX Gene

  • GC09M132170
  • GC09M134129
  • GC09M135136
  • GC09M104630

Summaries for SETX Gene

Entrez Gene Summary for SETX Gene

  • 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). [provided by RefSeq, Jul 2008]

GeneCards Summary for SETX Gene

SETX (Senataxin) is a Protein Coding gene. Diseases associated with SETX include Amyotrophic Lateral Sclerosis 4, Juvenile and Spinocerebellar Ataxia, Autosomal Recessive 1. GO annotations related to this gene include identical protein binding and transcription termination site sequence-specific DNA binding. An important paralog of this gene is AQR.

UniProtKB/Swiss-Prot for SETX Gene

  • Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3 transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

Gene Wiki entry for SETX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETX Gene

Genomics for SETX Gene

Regulatory Elements for SETX Gene

Enhancers for SETX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F133112 1.7 FANTOM5 ENCODE 43.9 -772.3 -772296 33.7 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 RALGDS SETX GTF3C4 TSC1 LOC100130548 REXO4 TTF1 SURF6 GBGT1 LINC00094
GH09F132349 1.1 ENCODE 26 +4.0 4010 7.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZNF207 SETX SURF6 TTF1 SNORD62B GC09M132284
GH09F131647 1.7 FANTOM5 Ensembl ENCODE 16.8 +701.4 701420 15.4 PKNOX1 MLX ARID4B DMAP1 BRCA1 YY1 ZNF121 FOS ZNF263 MXD4 RAPGEF1 SETX ENSG00000236687 ENSG00000236986 QRFP ENSG00000246851 ENSG00000176868 POMT1 FAM78A PRRC2B
GH09F131429 1 Ensembl ENCODE 27.2 +927.1 927084 1.3 ZNF493 ZNF175 YBX1 ZNF514 ZIC2 ZKSCAN1 ZNF239 SCRT2 ZNF600 ZNF548 SETX TTF1 ENSG00000236687 PRRC2B SNORD62A SNORD62B QRFP POMT1 LOC105376301 ENSG00000176868
GH09F133029 1.2 ENCODE 22.6 -674.0 -673981 2.5 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTF1 SETX SURF6 SURF4 RALGDS GTF3C5 CEL MIR6877
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SETX on UCSC Golden Path with GeneCards custom track

Genomic Location for SETX Gene

Chromosome:
9
Start:
132,261,356 bp from pter
End:
132,356,726 bp from pter
Size:
95,371 bases
Orientation:
Minus strand

Genomic View for SETX Gene

Genes around SETX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETX Gene

Proteins for SETX Gene

  • Protein details for SETX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z333-SETX_HUMAN
    Recommended name:
    Probable helicase senataxin
    Protein Accession:
    Q7Z333
    Secondary Accessions:
    • A2A396
    • B2RPB2
    • B5ME16
    • C9JQ10
    • O75120
    • Q3KQX4
    • Q5JUJ1
    • Q68DW5
    • Q6AZD7
    • Q7Z3J6
    • Q8WX33
    • Q9H9D1
    • Q9NVP9

    Protein attributes for SETX Gene

    Size:
    2677 amino acids
    Molecular mass:
    302880 Da
    Quaternary structure:
    • Homodimer (PubMed:24244371). Interacts with PER2; the interaction inhibits termination of circadian target genes (By similarity). Interacts with CHD4, POLR2A, PRKDC and TRIM28 (PubMed:23149945). Does not interact with C14orf178 (PubMed:24244371). Interacts with UBE2I (PubMed:24105744). Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation (PubMed:24105744). Interacts with NCL (via N-terminus domain) (PubMed:19515850). Interacts with PABPN1, PABPC1 and SF3B1 (PubMed:19515850). Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A (PubMed:19515850, PubMed:26700805).
    SequenceCaution:
    • Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97857.1; Type=Frameshift; Positions=1626; Evidence={ECO:0000305};

    Alternative splice isoforms for SETX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETX Gene

Selected DME Specific Peptides for SETX Gene

Q7Z333:
  • DRGIIVS
  • LTVQYRM
  • LVCAPSN
  • SPATDDA

Post-translational modifications for SETX Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SETX

Domains & Families for SETX Gene

Gene Families for SETX Gene

Protein Domains for SETX Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SETX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z333

UniProtKB/Swiss-Prot:

SETX_HUMAN :
  • The N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945).
  • Belongs to the DNA2/NAM7 helicase family.
Domain:
  • The N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945).
Family:
  • Belongs to the DNA2/NAM7 helicase family.
genes like me logo Genes that share domains with SETX: view

Function for SETX Gene

Molecular function for SETX Gene

UniProtKB/Swiss-Prot Function:
Probable RNA/DNA helicase involved in diverse aspects of RNA metabolism and genomic integrity. Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3 transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111).

Enzyme Numbers (IUBMB) for SETX Gene

Gene Ontology (GO) - Molecular Function for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001147 transcription termination site sequence-specific DNA binding IDA 21700224
GO:0003677 DNA binding IC 17562789
GO:0003678 DNA helicase activity TAS 17562789
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with SETX: view
genes like me logo Genes that share phenotypes with SETX: view

Human Phenotype Ontology for SETX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SETX Gene

MGI Knock Outs for SETX:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SETX Gene

Localization for SETX Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETX Gene

Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Chromosome. Chromosome, telomere. Cell projection, axon. Cell projection, growth cone. Note=May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. {ECO:0000250 UniProtKB:A2AKX3, ECO:0000269 PubMed:17562789, ECO:0000269 PubMed:21112256, ECO:0000269 PubMed:21576111, ECO:0000269 PubMed:23149945, ECO:0000269 PubMed:24105744}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SETX gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 24105744
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA,IDA 17562789
GO:0005654 nucleoplasm IEA,IDA 17562789
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with SETX: view

Pathways & Interactions for SETX Gene

No Data Available

Gene Ontology (GO) - Biological Process for SETX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IDA 21576111
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IDA 17562789
GO:0006310 DNA recombination IEA --
GO:0006353 DNA-templated transcription, termination IMP 26700805
genes like me logo Genes that share ontologies with SETX: view

No data available for Pathways by source and SIGNOR curated interactions for SETX Gene

Drugs & Compounds for SETX Gene

(2) Additional Compounds for SETX Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SETX: view

Transcripts for SETX Gene

Unigene Clusters for SETX Gene

Senataxin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SETX Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1:
SP2:
SP3:
SP4: -
SP5: - - -
SP6: -
SP7:
SP8:

ExUns: 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SETX Gene

GeneLoc Exon Structure for
SETX
ECgene alternative splicing isoforms for
SETX

Expression for SETX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SETX Gene

Protein differential expression in normal tissues from HIPED for SETX Gene

This gene is overexpressed in Platelet (22.3), Liver (11.3), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SETX Gene



NURSA nuclear receptor signaling pathways regulating expression of SETX Gene:

SETX

SOURCE GeneReport for Unigene cluster for SETX Gene:

Hs.460317

mRNA Expression by UniProt/SwissProt for SETX Gene:

Q7Z333-SETX_HUMAN
Tissue specificity: Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus).
genes like me logo Genes that share expression patterns with SETX: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for SETX Gene

Orthologs for SETX Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SETX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETX 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia SETX 34 35
  • 85.74 (n)
cow
(Bos Taurus)
Mammalia SETX 34 35
  • 83.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SETX 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setx 34 16 35
  • 80.01 (n)
rat
(Rattus norvegicus)
Mammalia Setx 34
  • 79.5 (n)
oppossum
(Monodelphis domestica)
Mammalia SETX 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETX 34 35
  • 63.42 (n)
lizard
(Anolis carolinensis)
Reptilia SETX 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setx 34
  • 56.86 (n)
zebrafish
(Danio rerio)
Actinopterygii setx 34 35
  • 50.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7504 35
  • 20 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEN1 35 37
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 3 (a)
OneToOne
Species where no ortholog for SETX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SETX Gene

ENSEMBL:
Gene Tree for SETX (if available)
TreeFam:
Gene Tree for SETX (if available)

Paralogs for SETX Gene

Paralogs for SETX Gene

genes like me logo Genes that share paralogs with SETX: view

Variants for SETX Gene

Sequence variations from dbSNP and Humsavar for SETX Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs112089123 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433], Likely benign 132,326,938(+) AAGAC(A/C)ATCTT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs116205032 Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002], Pathogenic 132,329,791(+) AGTGT(C/T)ACATG nc-transcript-variant, reference, missense
rs116333061 Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002], Pathogenic 132,329,641(+) GTCTT(G/T)CACTT nc-transcript-variant, reference, missense
rs121434378 Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433], Pathogenic 132,283,403(-) AGGAC(A/G)CCCAC nc-transcript-variant, reference, missense
rs121434379 Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002], Pathogenic 132,296,909(-) TGGCC(G/T)CCTCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SETX Gene

Variant ID Type Subtype PubMed ID
esv1132189 CNV deletion 17803354
esv2739126 CNV deletion 23290073
esv3573405 CNV loss 25503493
esv3621912 CNV loss 21293372
esv989756 CNV deletion 20482838
nsv1041246 CNV gain 25217958
nsv1053340 CNV loss 25217958
nsv1142040 OTHER inversion 24896259
nsv433506 CNV loss 18776910
nsv509328 CNV insertion 20534489

Variation tolerance for SETX Gene

Residual Variation Intolerance Score: 7.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.44; 81.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SETX Gene

Human Gene Mutation Database (HGMD)
SETX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SETX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETX Gene

Disorders for SETX Gene

MalaCards: The human disease database

(20) MalaCards diseases for SETX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 4, juvenile
  • amyotrophic lateral sclerosis type 4
spinocerebellar ataxia, autosomal recessive 1
  • ataxia with oculomotor apraxia type 2
spinocerebellar ataxia with axonal neuropathy type 2
  • aoa2
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • spinocerebellar ataxia, autosomal recessive 1
setx-related amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis 4, juvenile
- elite association - COSMIC cancer census association via MalaCards
Search SETX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SETX_HUMAN
  • Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]: A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:14770181, ECO:0000269 PubMed:15106121, ECO:0000269 PubMed:21190393, ECO:0000269 PubMed:24105744, ECO:0000269 PubMed:24244371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1) [MIM:606002]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia. {ECO:0000269 PubMed:14770181, ECO:0000269 PubMed:16644229, ECO:0000269 PubMed:16717225, ECO:0000269 PubMed:17096168, ECO:0000269 PubMed:23566282, ECO:0000269 PubMed:23786967, ECO:0000269 PubMed:23941260, ECO:0000269 PubMed:24105744}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SETX

Genetic Association Database (GAD)
SETX
Human Genome Epidemiology (HuGE) Navigator
SETX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SETX
genes like me logo Genes that share disorders with SETX: view

No data available for Genatlas for SETX Gene

Publications for SETX Gene

  1. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. (PMID: 17096168) Bassuk A.G. … Bennett C.L. (Neurogenetics 2007) 3 4 22 64
  2. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. (PMID: 17562789) Suraweera A. … Lavin M.F. (J. Cell Biol. 2007) 3 4 22 64
  3. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (PMID: 16717225) Asaka T. … Matsushima A. (Neurology 2006) 3 4 22 64
  4. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia- ocular apraxia 2. (PMID: 14770181) Moreira M.-C. … Koenig M. (Nat. Genet. 2004) 3 4 22 64
  5. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (PMID: 15106121) Chen Y.-Z. … Chance P.F. (Am. J. Hum. Genet. 2004) 3 4 22 64

Products for SETX Gene

Sources for SETX Gene

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