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Gene

DLAT

dihydrolipoamide S-acetyltransferase

Summary

Cytogenetic location
11q23.1
Coordinates
Chromosome 11: 112,025,408–112,064,404 (GRCh38)
Exons
14 exons across 39 kb
Protein
647 amino acids
Inheritance
Autosomal recessive
Also known as
PDC-E2, E2
Previous symbols
DLTA
MANE Select transcript
ENST00000280346.11NM_001931.5
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

  • 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 DLAT 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 DLAT sits. DLAT and 22 genes near it on chromosome 11, from 111,544,906 to 112,544,905.Chromosome 1111q23.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25111.6 Mb111.8 Mb112 Mb112.2 Mb112.4 MbLAYN: 111,540,280–111,565,625, forward strandLAYNSIK2: 111,602,383–111,730,855, forward strandSIK2PPP2R1B: 111,726,908–111,766,713, reverse strandPPP2R1BALG9: 111,782,195–111,872,405, reverse strand: 111,786,286–111,879,425, reverse strandFDXACB1: 111,873,947–111,881,243, reverse strandCFAP68: 111,878,935–111,885,975, forward strandCRYAB: 111,908,239–111,923,722, reverse strandCRYABHSPB2: 111,912,159–111,915,098, forward strandHSPB2-C11orf52: 111,912,736–111,926,871, forward strandHSPB2-C11orf52C11orf52: 111,918,032–111,926,873, forward strandC11orf52DIXDC1: 111,927,144–112,023,091, forward strandDIXDC1DLAT: 112,025,408–112,064,404, forward strandDLATPIH1D2: 112,052,485–112,074,274, reverse strandPIH1D2NKAPD1: 112,074,086–112,085,152, forward strandNKAPD1TIMM8B: 112,082,730–112,086,799, reverse strandTIMM8BSDHD: 112,086,361–112,120,016, forward strandSDHD: 112,086,903–112,193,805, forward strandIL18: 112,142,701–112,164,391, reverse strandIL18TEX12: 112,167,313–112,173,057, forward strandTEX12BCO2: 112,175,472–112,225,895, forward strandBCO2PTS: 112,226,059–112,270,449, forward strandPTSPLET1: 112,248,153–112,260,860, reverse strandPLET1Diagram of DLAT: 14 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 1: 112,025,408–112,025,751, 344 basesExon 2: 112,026,198–112,026,299, 102 basesExon 3: 112,028,515–112,028,639, 125 basesExon 4: 112,028,792–112,028,945, 154 basesExon 5: 112,033,404–112,033,530, 127 basesExon 6: 112,037,273–112,037,460, 188 basesExon 7: 112,039,244–112,039,397, 154 basesExon 8: 112,043,466–112,043,533, 68 basesExon 9: 112,045,138–112,045,230, 93 basesExon 10: 112,045,863–112,045,970, 108 basesExon 11: 112,051,234–112,051,349, 116 basesExon 12: 112,059,903–112,060,065, 163 basesExon 13: 112,061,038–112,061,174, 137 basesExon 14: 112,062,406–112,064,404, 1,999 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 3.9 kb of the gene's 39 kb; 1,944 of those bases code for the protein.

How a genome test reads DLAT

15

positions in DLAT 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 39 kb of DLAT, introns included, not only the 3.9 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.). DLAT gene: dihydrolipoamide S-acetyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dlat

Vancouver

Dante Labs. DLAT gene: dihydrolipoamide S-acetyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dlat

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