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Gene

PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1

Summary

Cytogenetic location
12p12.1
Coordinates
Chromosome 12: 21,437,655–21,471,250 (GRCh38)
Exons
12 exons across 33.6 kb
Protein
500 amino acids
Also known as
DKFZp762G094, FLJ22028
MANE Select transcript
ENST00000240651.14NM_024854.5
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

  • Myofibrillar Myopathies

    • Myofibrillar myopathy

      A group of muscle disorders in which the contractile structure of muscle fibers breaks down, caused by genes such as DES, CRYAB, MYOT, LDB3, FLNC and BAG3.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Because the heart is often involved, regular heart checks (such as ECG and echocardiography) are recommended even without symptoms.

How PYROXD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PYROXD1 sits. PYROXD1 and 13 genes near it on chromosome 12, from 20,954,453 to 21,954,452.Chromosome 1212p12.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3321 Mb21.2 Mb21.4 Mb21.6 Mb21.8 MbSLCO1B3-SLCO1B7: 20,815,674–21,090,245, forward strandSLCO1B3-SLCO1B7: 21,047,179–21,176,895, forward strandSLCO1B1: 21,127,862–21,298,065, forward strandSLCO1B1SLCO1A2: 21,264,600–21,419,676, reverse strandSLCO1A2IAPP: 21,354,959–21,379,980, forward strandIAPPPYROXD1: 21,437,655–21,471,250, forward strandPYROXD1RECQL: 21,464,720–21,501,669, reverse strandRECQLGOLT1B: 21,501,781–21,518,408, forward strandGOLT1BSPX: 21,526,296–21,541,249, forward strandSPXGYS2: 21,531,545–21,604,951, reverse strandGYS2: 21,536,203–21,657,798, reverse strandLDHB: 21,635,339–21,757,890, reverse strandLDHBKCNJ8: 21,763,939–21,775,615, reverse strandKCNJ8ABCC9: 21,797,389–21,942,543, reverse strandABCC9Diagram of PYROXD1: 12 exons on the forward strand of chromosome 12Exon 1: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 1: 21,437,655–21,437,814, 160 basesExon 2: 21,440,368–21,440,448, 81 basesExon 3: 21,445,347–21,445,466, 120 basesExon 4: 21,449,563–21,449,691, 129 basesExon 5: 21,452,081–21,452,154, 74 basesExon 6: 21,455,132–21,455,292, 161 basesExon 7: 21,455,995–21,456,095, 101 basesExon 8: 21,461,025–21,461,154, 130 basesExon 9: 21,462,008–21,462,120, 113 basesExon 10: 21,462,740–21,462,862, 123 basesExon 11: 21,467,481–21,467,618, 138 basesExon 12: 21,468,506–21,471,250, 2,745 bases1234567891011125′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 4.1 kb of the gene's 33.6 kb; 1,503 of those bases code for the protein.

How a genome test reads PYROXD1

5

positions in PYROXD1 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 33.6 kb of PYROXD1, introns included, not only the 4.1 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.). PYROXD1 gene: pyridine nucleotide-disulphide oxidoreductase domain 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pyroxd1

Vancouver

Dante Labs. PYROXD1 gene: pyridine nucleotide-disulphide oxidoreductase domain 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pyroxd1

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