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Gene

DLD

dihydrolipoamide dehydrogenase

Summary

Cytogenetic location
7q31.1
Coordinates
Chromosome 7: 107,891,183–107,921,198 (GRCh38)
Exons
14 exons across 30 kb
Protein
509 amino acids
Inheritance
Autosomal recessive
Also known as
DLDH, E3, OGDC-E3
Previous symbols
LAD, GCSL
MANE Select transcript
ENST00000205402.10NM_000108.5
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 reports relevant to this gene

  • Maple Syrup Urine Disease

    • Autosomal recessive

      Caused by variants in BCKDHA, BCKDHB or DBT, which can cause a sweet-smelling urine, poor feeding and, without treatment, brain swelling and metabolic crises.

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

      Knowing allows a protein-modified diet, close monitoring of leucine levels and emergency care during illness, which can prevent brain injury.

  • 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.

      • ClinGen rates the link definitive
      • 8 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 DLD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where DLD sits. DLD and 11 genes near it on chromosome 7, from 107,406,191 to 108,406,190.Chromosome 77q31.1p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3107.6 Mb107.8 Mb108 Mb108.2 Mb108.4 MbCOG5: 107,198,800–107,564,515, reverse strandCOG5GPR22: 107,470,018–107,478,011, forward strandGPR22DUS4L: 107,563,484–107,579,483, forward strandDUS4LDUS4L-BCAP29: 107,563,971–107,623,317, forward strandDUS4L-BCAP29BCAP29: 107,579,957–107,633,139, forward strandBCAP29SLC26A4: 107,660,594–107,717,809, forward strandSLC26A4CBLL1: 107,743,073–107,762,079, forward strandCBLL1SLC26A3: 107,764,219–107,803,630, reverse strandSLC26A3DLD: 107,891,183–107,921,198, forward strandDLDLAMB1: 107,921,975–108,004,434, reverse strandLAMB1LAMB4: 108,023,548–108,130,367, reverse strandLAMB4NRCAM: 108,147,623–108,456,717, reverse strandNRCAMDiagram of DLD: 14 exons on the forward strand of chromosome 7Exon 1: 8 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 11: 21 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 1 known disease-causing siteExon 1: 107,891,183–107,891,289, 107 basesExon 2: 107,893,200–107,893,278, 79 basesExon 3: 107,901,738–107,901,817, 80 basesExon 4: 107,902,325–107,902,393, 69 basesExon 5: 107,903,478–107,903,547, 70 basesExon 6: 107,904,958–107,905,058, 101 basesExon 7: 107,905,361–107,905,504, 144 basesExon 8: 107,906,267–107,906,368, 102 basesExon 9: 107,915,506–107,915,696, 191 basesExon 10: 107,916,794–107,916,964, 171 basesExon 11: 107,917,273–107,917,462, 190 basesExon 12: 107,917,924–107,918,061, 138 basesExon 13: 107,919,010–107,919,099, 90 basesExon 14: 107,919,194–107,921,198, 2,005 bases124681012145′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 3.5 kb of the gene's 30 kb; 1,530 of those bases code for the protein.

How a genome test reads DLD

125

positions in DLD 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 30 kb of DLD, introns included, not only the 3.5 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.). DLD gene: dihydrolipoamide dehydrogenase. Retrieved 17 October 2026, from https://dantelabs.com/genes/dld

Vancouver

Dante Labs. DLD gene: dihydrolipoamide dehydrogenase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dld

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