Gene
ACOX1
acyl-CoA oxidase 1
- HGNC 119(opens in a new tab)
- Ensembl gene ENSG00000161533(opens in a new tab)
- NCBI Gene 51(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 75,941,507–75,979,166 (GRCh38)
- Exons
- 14 exons across 37.7 kb
- Protein
- 660 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- PALMCOX
- MANE Select transcript
- ENST00000293217.10NM_004035.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Peroxisomal Enzyme Disorders & Refsum Disease
- Peroxisomal Acyl-CoA Oxidase DeficiencyAutosomal recessive
Caused by variants in ACOX1, which can cause low muscle tone, seizures and progressive loss of skills in early childhood.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide supportive care and family planning.
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 ACOX1 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 7.3 kb of the gene's 37.7 kb; 1,983 of those bases code for the protein.
How a genome test reads ACOX1
69
positions in ACOX1 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 37.7 kb of ACOX1, introns included, not only the 7.3 kb of exons.
Traits linked to ACOX1
The Human Phenotype Ontology lists these as features of the rare conditions ACOX1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intellectual disability, severe
- Loss of developmental milestones
- Abnormal gait
- Abnormal shape of nervous system
- Abnormal speech pattern
- EEG abnormality
- Epilepsy
- Global developmental delay
Show 15 more traits
- Increased reflexes
- Babinski sign
- Abnormal autonomic nervous system physiology
- Abnormal cerebral white matter morphology
- Absent speech development
- Clumsiness
- CNS demyelination
- Dystonia
- Encephalopathy
- Intellectual disability
- Irritability
- Leukodystrophy
- No social interaction
- Sensory axonal neuropathy
- Severe global developmental delay
Abnormality of the eye
- Abnormal electroretinogram
- Abnormality of visual evoked potentials
- Close sighted
- Cross-eyed
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Wide-set eyes
- Decreased light- and dark-adapted electroretinogram amplitude
Show 2 more traits
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.). ACOX1 gene: acyl-CoA oxidase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/acox1
Dante Labs. ACOX1 gene: acyl-CoA oxidase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acox1
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