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Gene

PDHB

pyruvate dehydrogenase E1 subunit beta

Summary

Cytogenetic location
3p14.3
Coordinates
Chromosome 3: 58,427,630–58,433,832 (GRCh38)
Exons
10 exons across 6.2 kb
Protein
359 amino acids
Inheritance
Autosomal recessive
Also known as
PDHE1B, E1beta
MANE Select transcript
ENST00000302746.11NM_000925.4
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.

      • 4 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 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 PDHB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 3, with a bracket where PDHB sits. PDHB and 12 genes near it on chromosome 3, from 57,930,731 to 58,930,730.Chromosome 33p14.3p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2958 Mb58.2 Mb58.4 Mb58.6 Mb58.8 MbSLMAP: 57,755,450–57,931,461, forward strandSLMAPFLNB: 58,008,398–58,172,251, forward strandFLNBDNASE1L3: 58,191,375–58,214,697, reverse strandDNASE1L3ABHD6: 58,237,502–58,296,814, forward strandABHD6RPP14: 58,306,239–58,324,695, forward strandRPP14HTD2: 58,306,239–58,324,695, forward strandHTD2PXK: 58,332,579–58,426,867, forward strandPXKPDHB: 58,427,630–58,433,832, reverse strandPDHBKCTD6: 58,491,078–58,502,584, forward strandKCTD6ACOX2: 58,504,544–58,537,400, reverse strandACOX2FAM107A: 58,564,114–58,627,651, reverse strandFAM107AFAM3D: 58,633,941–58,666,877, reverse strandFAM3DCFAP20DC: 58,717,365–59,050,084, reverse strandCFAP20DCDiagram of PDHB: 10 exons on the reverse strand of chromosome 3Exon 9: 4 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 10: 58,427,630–58,428,179, 550 basesExon 9: 58,428,473–58,428,614, 142 basesExon 8: 58,429,708–58,429,799, 92 basesExon 7: 58,430,128–58,430,238, 111 basesExon 6: 58,430,657–58,430,942, 286 basesExon 5: 58,431,593–58,431,628, 36 basesExon 4: 58,431,731–58,431,793, 63 basesExon 3: 58,431,877–58,431,984, 108 basesExon 2: 58,433,631–58,433,684, 54 basesExon 1: 58,433,768–58,433,832, 65 bases109876543215′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 1.5 kb of the gene's 6.2 kb; 1,080 of those bases code for the protein.

How a genome test reads PDHB

40

positions in PDHB 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 6.2 kb of PDHB, introns included, not only the 1.5 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.). PDHB gene: pyruvate dehydrogenase E1 subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/pdhb

Vancouver

Dante Labs. PDHB gene: pyruvate dehydrogenase E1 subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pdhb

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