Skip to content
Use your HSA or FSA funds

Gene

COQ7

coenzyme Q7, hydroxylase

Summary

Cytogenetic location
16p12.3
Coordinates
Chromosome 16: 19,067,614–19,080,095 (GRCh38)
Exons
6 exons across 12.5 kb
Protein
217 amino acids
Inheritance
Autosomal recessive
Also known as
CLK-1, CAT5
MANE Select transcript
ENST00000321998.10NM_016138.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • 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 strong
      • 1 GenCC submitter rates it definitive or strong

  • 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.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing is actionable: primary coenzyme Q10 deficiency can respond to high-dose coenzyme Q10 supplements, especially when started early.

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 COQ7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where COQ7 sits. COQ7 and 12 genes near it on chromosome 16, from 18,573,855 to 19,573,854.Chromosome 1616p12.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.318.6 Mb18.8 Mb19 Mb19.2 Mb19.4 MbRPS15A: 18,775,365–18,790,420, reverse strandRPS15A: 18,788,063–18,801,519, reverse strandARL6IP1: 18,791,609–18,801,572, reverse strandARL6IP1SMG1: 18,804,860–18,926,459, reverse strandSMG1TMC7: 18,983,928–19,063,947, forward strandTMC7COQ7: 19,067,614–19,080,095, forward strandCOQ7ITPRIPL2: 19,113,932–19,121,629, forward strandITPRIPL2SYT17: 19,167,971–19,268,334, forward strandSYT17CLEC19A: 19,285,731–19,322,145, forward strandCLEC19ATMC5: 19,410,428–19,499,117, forward strandTMC5GDE1: 19,501,681–19,522,132, reverse strandGDE1CCP110: 19,523,808–19,553,408, forward strandCCP110VPS35L: 19,555,240–19,706,793, forward strandVPS35LDiagram of COQ7: 6 exons on the forward strand of chromosome 16Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 1: 19,067,614–19,067,737, 124 basesExon 2: 19,071,928–19,072,106, 179 basesExon 3: 19,073,921–19,074,035, 115 basesExon 4: 19,075,721–19,075,860, 140 basesExon 5: 19,077,306–19,077,374, 69 basesExon 6: 19,078,081–19,080,095, 2,015 bases1234565′3′

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 2.6 kb of the gene's 12.5 kb; 654 of those bases code for the protein.

How a genome test reads COQ7

9

positions in COQ7 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 12.5 kb of COQ7, introns included, not only the 2.6 kb of exons.

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.). COQ7 gene: coenzyme Q7, hydroxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/coq7

Vancouver

Dante Labs. COQ7 gene: coenzyme Q7, hydroxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coq7

One test. A lifetime of answers.

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

Get my Genome Test