Gene

COQ8A

coenzyme Q8A

Cytogenetic location: 1q42.13
Coordinates: Chromosome 1: 226,940,294–226,987,544 (GRCh38)
Exons: 15 exons across 47.3 kb
Protein: 647 amino acids
Also known as: COQ8, SCAR9
Previous symbols: CABC1, ADCK3
MANE Select transcript: ENST00000366777.4NM_020247.5
Locus type: Protein-coding

Very high
Confident
Low
Very low

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/genes/coq8a.json"
page <- fromJSON(url)
page$gene$name

Open the JSON

Read COQ8A, and the rest of your genome, with one test.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test

Curated reports relevant to this gene

Primary Mitochondrial Disease
- Coenzyme Q10 DeficiencyAutosomal recessive
  Caused by variants in genes needed to make coenzyme Q10, such as COQ2, COQ8A and PDSS2, which can cause kidney disease, balance problems, muscle weakness or brain disease.
  - 2 GenCC submitters rate it definitive or strong
  Actionability
  Knowing is actionable: primary coenzyme Q10 deficiency can respond to high-dose coenzyme Q10 supplements, especially when started early.

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.
  - 1 GenCC submitter rates it definitive or strong
  Actionability
  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.

How COQ8A 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 2.9 kb of the gene's 47.3 kb; 1,944 of those bases code for the protein.

Sequencing COQ8A

positions in COQ8A 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 47.3 kb of COQ8A, introns included, not only the 2.9 kb of exons.

Traits linked to COQ8A

The Human Phenotype Ontology lists these as features of the rare conditions COQ8A can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 10 more traits

Laboratory abnormality

Abnormality of the musculoskeletal system

Abnormality of limbs

Abnormality of the eye

External links

Gene records

Transcript

Protein

Variants

Clinical

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

APA

Dante Labs. (n.d.). COQ8A gene: coenzyme Q8A. Retrieved 17 October 2026, from https://dantelabs.com/genes/coq8a

Vancouver

Dante Labs. COQ8A gene: coenzyme Q8A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/coq8a

One test. A lifetime of answers.