Gene
APTX
aprataxin
- HGNC 15984(opens in a new tab)
- Ensembl gene ENSG00000137074(opens in a new tab)
- NCBI Gene 54840(opens in a new tab)
Summary
- Cytogenetic location
- 9p21.1
- Coordinates
- Chromosome 9: 32,972,616–33,001,628 (GRCh38)
- Exons
- 8 exons across 29 kb
- Protein
- 342 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FLJ20157, AOA, AOA1, EAOH, EOAHA
- Previous symbols
- AXA1
- MANE Select transcript
- ENST00000379817.7NM_001195248.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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DNA Repair Disease
- Autosomal recessive
A disease that has its basis in the disruption of DNA repair.
- 4 GenCC submitters rate it definitive or strong
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 APTX 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 2 kb of the gene's 29 kb; 1,029 of those bases code for the protein.
How a genome test reads APTX
17
positions in APTX 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 29 kb of APTX, introns included, not only the 2 kb of exons.
Traits linked to APTX
The Human Phenotype Ontology lists these as features of the rare conditions APTX can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Degeneration of cerebellum
- Diffuse cerebral atrophy
- Global developmental delay
- Impaired distal vibration sensation
- Jerking
- Loss of ability to walk
- Repeated seizures without recovery between them
Show 28 more traits
- Right hemiplegia
- Tremor
- Abnormal gait
- Abnormality of the nervous system
- Absent reflexes
- Decreased sensation in extremities
- Peripheral neuropathy
- Chorea
- Dystonia
- Impaired executive functioning
- Mental deterioration
- Axonal degeneration
- Balance impairment
- Cognitive impairment
- Decreased number of large peripheral myelinated nerve fibers
- Decreased reflex response
- Dementia
- Difficulty articulating speech
- Encephalopathy
- Epilepsy
- Explosive speech
- Inability to coordinate movements when walking
- Instability or lack of coordination of central trunk muscles
- Intellectual disability
- Limb ataxia
- Motor delay
- Peripheral axonal degeneration
- Specific learning disability
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.). APTX gene: aprataxin. Retrieved 16 October 2026, from https://dantelabs.com/genes/aptx
Dante Labs. APTX gene: aprataxin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aptx
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