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Gene

DBT

dihydrolipoamide branched chain transacylase E2

Summary

Cytogenetic location
1p21.2
Coordinates
Chromosome 1: 100,186,919–100,249,834 (GRCh38)
Exons
11 exons across 62.9 kb
Protein
482 amino acids
Also known as
BCOADC-E2, BCKAD-E2, BCKDH-E2
MANE Select transcript
ENST00000370132.8NM_001918.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report 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
      • 5 GenCC submitters rate it definitive or strong
      Actionability

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

How DBT is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where DBT sits. DBT and 11 genes near it on chromosome 1, from 99,718,377 to 100,718,376.Chromosome 11p21.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4499.8 Mb100 Mb100.2 Mb100.4 Mb100.6 MbFRRS1: 99,703,970–99,766,642, reverse strandFRRS1AGL: 99,849,777–99,924,427, forward strandAGLSLC35A3: 99,969,351–100,035,634, forward strandSLC35A3: 99,970,011–100,083,321, forward strandSLC71A1: 100,038,076–100,083,948, forward strandSLC71A1SASS6: 100,083,563–100,132,955, reverse strandSASS6TRMT13: 100,133,043–100,151,150, forward strandTRMT13LRRC39: 100,146,522–100,178,306, reverse strandLRRC39DBT: 100,186,919–100,249,834, reverse strandDBTRTCA: 100,266,154–100,292,769, forward strandRTCACDC14A: 100,325,629–100,520,564, forward strandCDC14AGPR88: 100,538,105–100,542,021, forward strandGPR88Diagram of DBT: 11 exons on the reverse strand of chromosome 1Exon 11: 14 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 22 known disease-causing sitesExon 6: 15 known disease-causing sitesExon 5: 12 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 5 known disease-causing sitesExon 11: 100,186,919–100,196,422, 9,504 basesExon 10: 100,206,230–100,206,301, 72 basesExon 9: 100,206,445–100,206,636, 192 basesExon 8: 100,210,694–100,210,771, 78 basesExon 7: 100,214,817–100,214,983, 167 basesExon 6: 100,215,983–100,216,199, 217 basesExon 5: 100,218,626–100,218,747, 122 basesExon 4: 100,230,733–100,230,914, 182 basesExon 3: 100,235,436–100,235,511, 76 basesExon 2: 100,240,761–100,240,884, 124 basesExon 1: 100,249,770–100,249,834, 65 bases1110864215′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 10.8 kb of the gene's 62.9 kb; 1,449 of those bases code for the protein.

Sequencing DBT

157

positions in DBT 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 62.9 kb of DBT, introns included, not only the 10.8 kb of exons.

Genes linked to the same conditions

Traits linked to DBT

The Human Phenotype Ontology lists these as features of the rare conditions DBT can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-17: 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 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). DBT gene: dihydrolipoamide branched chain transacylase E2. Retrieved 17 October 2026, from https://dantelabs.com/genes/dbt

Vancouver

Dante Labs. DBT gene: dihydrolipoamide branched chain transacylase E2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dbt

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