DBT (gene)

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DBT
Protein DBT PDB 1k8m.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDBT, BCATE2, BCKAD-E2, BCKADE2, E2, E2B, BCOADC-E2, dihydrolipoamide branched chain transacylase E2
External IDsMGI: 105386 HomoloGene: 1444 GeneCards: DBT
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for DBT
Genomic location for DBT
Band1p21.2Start100,186,919 bp[1]
End100,249,834 bp[1]
RNA expression pattern
PBB GE DBT 205371 s at fs.png

PBB GE DBT 205370 x at fs.png

PBB GE DBT 205369 x at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001918

NM_010022
NM_001357344

RefSeq (protein)

NP_001909

NP_034152
NP_001344273

Location (UCSC)Chr 1: 100.19 – 100.25 MbChr 3: 116.51 – 116.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial is an enzyme that in humans is encoded by the DBT gene.[5][6][7]

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137992 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000340 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Lau KS, Chuang JL, Herring WJ, Danner DJ, Cox RP, Chuang DT (Dec 1992). "The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex". Biochim Biophys Acta. 1132 (3): 319–21. doi:10.1016/0167-4781(92)90169-z. PMID 1420314. 
  6. ^ Lau KS, Herring WJ, Chuang JL, McKean M, Danner DJ, Cox RP, Chuang DT (Dec 1992). "Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene". J Biol Chem. 267 (33): 24090–6. PMID 1429740. 
  7. ^ a b "Entrez Gene: DBT dihydrolipoamide branched chain transacylase E2". 

Further reading[edit]