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Gene

PDHX

pyruvate dehydrogenase complex component X

Summary

Cytogenetic location
11p13
Coordinates
Chromosome 11: 34,916,618–34,996,128 (GRCh38)
Exons
11 exons across 79.5 kb
Protein
501 amino acids
Inheritance
Autosomal recessive
Also known as
E3BP, proX, PDX1, OPDX, DLDBP
MANE Select transcript
ENST00000227868.9NM_003477.3
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

  • Pyruvate Dehydrogenase & Pyruvate Carboxylase Deficiency

    • Pyruvate Dehydrogenase DeficiencyAutosomal recessive

      Caused by variants in PDHA1 (X-linked, often new in the child) or in PDHB, DLAT, PDHX, DLD, PDP1 or LIAS, which can cause lactic acidosis, developmental delay, seizures and movement problems.

      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows a ketogenic diet, avoidance of high-carbohydrate loads, and thiamine for responsive forms.

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 definitive
      • 1 GenCC submitter rates it definitive or strong

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 PDHX is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where PDHX sits. PDHX and 7 genes near it on chromosome 11, from 34,456,373 to 35,456,372.Chromosome 1111p13p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2534.6 Mb34.8 Mb35 Mb35.2 Mb35.4 MbCAT: 34,438,709–34,472,061, forward strandCATELF5: 34,478,791–34,525,193, reverse strandELF5EHF: 34,617,044–34,663,386, forward strandEHFAPIP: 34,853,094–34,916,520, reverse strandAPIPPDHX: 34,916,618–34,996,128, forward strandPDHXCD44: 35,138,721–35,232,402, forward strandCD44SLC1A2: 35,251,205–35,420,063, reverse strandSLC1A2PAMR1: 35,431,823–35,530,300, reverse strandPAMR1Diagram of PDHX: 11 exons on the forward strand of chromosome 11Exon 1: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 6 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 3 known disease-causing sitesExon 1: 34,916,618–34,916,815, 198 basesExon 2: 34,931,404–34,931,484, 81 basesExon 3: 34,947,506–34,947,606, 101 basesExon 4: 34,957,384–34,957,583, 200 basesExon 5: 34,960,420–34,960,518, 99 basesExon 6: 34,966,640–34,966,814, 175 basesExon 7: 34,970,139–34,970,286, 148 basesExon 8: 34,978,124–34,978,182, 59 basesExon 9: 34,984,570–34,984,728, 159 basesExon 10: 34,992,315–34,992,379, 65 basesExon 11: 34,994,914–34,996,128, 1,215 bases12345678910115′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 2.5 kb of the gene's 79.5 kb; 1,506 of those bases code for the protein.

How a genome test reads PDHX

22

positions in PDHX 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 79.5 kb of PDHX, introns included, not only the 2.5 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.). PDHX gene: pyruvate dehydrogenase complex component X. Retrieved 17 October 2026, from https://dantelabs.com/genes/pdhx

Vancouver

Dante Labs. PDHX gene: pyruvate dehydrogenase complex component X [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pdhx

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