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Gene

PDSS1

decaprenyl diphosphate synthase subunit 1

Summary

Cytogenetic location
10p12.1
Coordinates
Chromosome 10: 26,697,701–26,746,798 (GRCh38)
Exons
12 exons across 49.1 kb
Protein
415 amino acids
Inheritance
Autosomal recessive
Also known as
TPT, COQ1, COQ1A
Previous symbols
TPRT
MANE Select transcript
ENST00000376215.10NM_014317.5
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 report 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.

      • 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.

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 PDSS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where PDSS1 sits. PDSS1 and 7 genes near it on chromosome 10, from 26,222,250 to 27,222,249.Chromosome 1010p12.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.326.4 Mb26.6 Mb26.8 Mb27 Mb27.2 MbGAD2: 26,216,251–26,304,558, forward strandGAD2APBB1IP: 26,438,160–26,568,449, forward strandAPBB1IPPDSS1: 26,697,701–26,746,798, forward strandPDSS1ABI1: 26,745,266–26,861,094, reverse strandABI1ANKRD26: 26,973,793–27,100,520, reverse strandANKRD26YME1L1: 27,107,777–27,155,266, reverse strandYME1L1MASTL: 27,154,425–27,187,953, forward strandMASTLACBD5: 27,168,135–27,243,046, reverse strandACBD5Diagram of PDSS1: 12 exons on the forward strand of chromosome 10Exon 1: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 1: 26,697,701–26,697,840, 140 basesExon 2: 26,702,162–26,702,194, 33 basesExon 3: 26,704,677–26,704,741, 65 basesExon 4: 26,705,286–26,705,394, 109 basesExon 5: 26,709,638–26,709,768, 131 basesExon 6: 26,720,218–26,720,359, 142 basesExon 7: 26,723,806–26,723,917, 112 basesExon 8: 26,724,014–26,724,123, 110 basesExon 9: 26,735,240–26,735,320, 81 basesExon 10: 26,735,466–26,735,579, 114 basesExon 11: 26,742,497–26,742,577, 81 basesExon 12: 26,746,333–26,746,798, 466 bases1246810125′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 1.6 kb of the gene's 49.1 kb; 1,248 of those bases code for the protein.

How a genome test reads PDSS1

11

positions in PDSS1 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 49.1 kb of PDSS1, introns included, not only the 1.6 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.). PDSS1 gene: decaprenyl diphosphate synthase subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pdss1

Vancouver

Dante Labs. PDSS1 gene: decaprenyl diphosphate synthase subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pdss1

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