Gene
COASY
Coenzyme A synthase
- HGNC 29932↗(opens in a new tab)
- Ensembl gene ENSG00000068120↗(opens in a new tab)
- NCBI Gene 80347↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q21.2
- Coordinates
- Chromosome 17: 42,562,148–42,566,277 (GRCh38)
- Exons
- 9 exons across 4.1 kb
- Protein
- 564 amino acids
- Also known as
- DPCK, NBP, PPAT
- MANE Select transcript
- ENST00000393818.3NM_025233.7
- 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.
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Get my Genome TestCurated report relevant to this gene
Neurodegeneration with Brain Iron Accumulation (NBIA)
- Neurodegeneration with Brain Iron Accumulation
A group of disorders including PKAN (PANK2), PLAN (PLA2G6), MPAN (C19orf12), BPAN (WDR45), neuroferritinopathy (FTL) and aceruloplasminemia (CP), with mostly recessive inheritance.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Symptom treatment for dystonia and parkinsonism, iron chelation for aceruloplasminemia, and carrier testing for relatives in recessive forms.
How COASY is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.5 kb of the gene's 4.1 kb; 1,695 of those bases code for the protein.
How a genome test reads COASY
32
positions in COASY 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 4.1 kb of COASY, introns included, not only the 2.5 kb of exons.
Genes linked to the same conditions
- ATP13A2ATPase cation transporting 13A2Shares 1 condition
- C19orf12chromosome 19 open reading frame 12Shares 1 condition
- CPceruloplasminShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- FTH1ferritin heavy chain 1Shares 1 condition
- FTLferritin light chainShares 1 condition
- PANK2pantothenate kinase 2Shares 1 condition
- PLA2G6phospholipase A2 group VIShares 1 condition
- WDR45WD repeat domain 45Shares 1 condition
Traits linked to COASY
The Human Phenotype Ontology lists these as features of the rare conditions COASY can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal gait
- Difficulty articulating speech
- Dystonia
- Intellectual disability
- Motor axonal neuropathy
- Small cerebellum
- Toe walking
- Abnormal caudate nucleus morphology
Show 24 more traits
- Abnormal corpus striatum morphology
- Abnormal globus pallidus morphology
- Abnormal thalamus morphology
- Cognitive impairment
- Eye of the tiger anomaly of globus pallidus
- Obsessive compulsive behavior
- Oromandibular dystonia
- Parkinsonism
- Peripheral axonal neuropathy
- Abnormal postural reflex
- Delayed ability to walk
- Motor tics
- Small brainstem
- Degeneration of cerebrum
- Lateral ventricle dilatation
- Decreased reflex response
- Depression
- Global developmental delay
- Loss of developmental milestones
- Mental deterioration
- Ongoing loss of nerve cells
- Slow movements
- Small cerebrum
- Underdevelopment of part of brain called corpus callosum
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.). COASY gene: Coenzyme A synthase. Retrieved 17 October 2026, from https://dantelabs.com/genes/coasy
Dante Labs. COASY gene: Coenzyme A synthase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/coasy
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