Dihydrolipoamide Branched-Chain Transacylase

Alternative Names

  • DBT
  • Branched-Chain Acyltransferase, E2 Component
  • BCATE2
  • Branched-Chain Keto Acid Dehydrogenase Complex, E2 Component

Associated Diseases

Maple Syrup Urine Disease
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OMIM Number

248610

NCBI Gene ID

1629

Uniprot ID

P11182

Length

62,945 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Dihydrolipoamide Branched-Chain Transacylase

Molecular Mass

53487 Da

Amino Acid Count

482

Genomic Location

chr1:100,186,918-100,249,863

Gene Map Locus
1p21.2

Description

The DBT gene is located on 1p21.2 chromosome, where it encodes a part of an enzyme complex (E2) of 482 amino acids. This inner mitochondrial enzyme complex called branched-chain alpha-keto acid dehydrogenase (BCKD) is involved in the normal breakdown of three amino acids: leucine, isoleucine, and valine. The breakdown of these amino acids produces molecules that can be used for energy.

Defects in the Dihydrolipoamide Branched-Chain Transacylase enzyme result in accumulation of the above-mentioned amino acids and their corresponding keto acids in the nervous system. This accumulation results in the development of Maple Syrup Urine Disease, characterized by seizures, developmental delay, and mental retardation.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001918.4:c.1281+1G>TUnited Arab Emirateschr1:100206229Likely PathogenicMaple Syrup Urine DiseaseNG_011852.2:g.48625G>T; NM_001918.4:c.1281+1G>T1557943881623330
NM_001918.4:c.1430T>GLebanonchr1:100196274PathogenicMaple Syrup Urine DiseaseNG_011852.2:g.58580T>G; NM_001918.4:c.1430T>G; NP_001909.3:p.Met477Arg39812366293994
NM_001918.4:c.224G>ALebanonchr1:100235463PathogenicMaple Syrup Urine DiseaseNG_011852.2:g.19391G>A; NM_001918.4:c.224G>A; NP_001909.3:p.Gly75Glu
NM_001918.4:c.634C>TYemenNC_000001.11:g.100216121G>ALikely PathogenicMaple Syrup Urine DiseaseNG_011852.2:g.38733C>T; NM_001918.4:c.634C>T; NP_001909.3:p.Gln212Ter1553230841557560
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