Gene
PDSS2
decaprenyl diphosphate synthase subunit 2
- HGNC 23041(opens in a new tab)
- Ensembl gene ENSG00000164494(opens in a new tab)
- NCBI Gene 57107(opens in a new tab)
Summary
- Cytogenetic location
- 6q21
- Coordinates
- Chromosome 6: 107,152,562–107,459,564 (GRCh38)
- Exons
- 8 exons across 307 kb
- Protein
- 399 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- bA59I9.3, COQ1B
- Previous symbols
- C6orf210
- MANE Select transcript
- ENST00000369037.9NM_020381.4
- 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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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.
- 3 GenCC submitters rate 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.
Broader groupings
Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link moderate
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 PDSS2 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 3.5 kb of the gene's 307 kb; 1,200 of those bases code for the protein.
How a genome test reads PDSS2
6
positions in PDSS2 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 307 kb of PDSS2, introns included, not only the 3.5 kb of exons.
Traits linked to PDSS2
The Human Phenotype Ontology lists these as features of the rare conditions PDSS2 can cause. Each trait's page lists the other genes linked to it.
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.). PDSS2 gene: decaprenyl diphosphate synthase subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pdss2
Dante Labs. PDSS2 gene: decaprenyl diphosphate synthase subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pdss2
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