Gene
SETX
senataxin
- HGNC 445(opens in a new tab)
- Ensembl gene ENSG00000107290(opens in a new tab)
- NCBI Gene 23064(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.13
- Coordinates
- Chromosome 9: 132,261,356–132,354,986 (GRCh38)
- Exons
- 26 exons across 93.6 kb
- Protein
- 2,677 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA0625, AOA2, Sen1, STEX
- Previous symbols
- ALS4, SCAR1
- MANE Select transcript
- ENST00000224140.6NM_015046.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read SETX, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Amyotrophic Lateral Sclerosis (ALS)
- Amyotrophic Lateral Sclerosis
A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members
Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
DNA Repair Disease
- Autosomal recessive
A disease that has its basis in the disruption of DNA repair.
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SETX is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 11.1 kb of the gene's 93.6 kb; 8,034 of those bases code for the protein.
How a genome test reads SETX
86
positions in SETX where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 93.6 kb of SETX, introns included, not only the 11.1 kb of exons.
Traits linked to SETX
The Human Phenotype Ontology lists these as features of the rare conditions SETX can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of anterior horn cells
- Degeneration of cerebellum
- Degeneration of the spinal cord
- Difficulty articulating speech
- Diminished deep tendon reflex
- Impaired proprioception
- Peripheral axonal neuropathy
- Absent reflexes
Show 34 more traits
- Ataxia
- Cerebellar vermis atrophy
- Inability to coordinate movements when walking
- Nerve damage causing decreased feeling and movement
- Abnormal pyramidal sign
- Abnormality of balance
- Babinski sign
- Decreased touch sensation in extremities
- Somatic sensory dysfunction
- Tremor
- Abnormal gait
- Chorea
- Choreoathetosis
- Clonus
- Decreased reflex response
- Dystonia
- Head tremor
- Postural tremor
- Abnormal lower motor neuron morphology
- Axonal degeneration
- Chronic axonal neuropathy
- Decreased compound muscle action potential amplitude
- Decreased motor nerve conduction velocity
- Diffuse axonal swelling
- Impaired distal vibration sensation
- Increased reflexes
- Limb ataxia
- Lou Gehrig's disease
- Pallor of dorsal columns of the spinal cord
- Peripheral axonal degeneration
- Peripheral nerve disease
- Pontocerebellar atrophy
- Progressive gait ataxia
- Twitching
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SETX gene: senataxin. Retrieved 16 October 2026, from https://dantelabs.com/genes/setx
Dante Labs. SETX gene: senataxin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/setx
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks