DBT - dihydrolipoamide branched chain transacylase E2 Gene

Also Known as E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCKDH-E2; BCOADC-E2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1629

About DBT

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,186,919-100,249,834 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

DBT Products (3)

mRNA Protein Name
NM_001399969.1 NP_001386898.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001399972.1 NP_001386901.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001918.5 NP_001909.4 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
contributes to branched-chain alpha-keto acid dehydrogenase activity IDA
IDA: Inferred from direct assay
3593587 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
22291014 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
19725078 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in branched-chain amino acid catabolic process IDA
IDA: Inferred from direct assay
3593587 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of branched-chain alpha-ketoacid dehydrogenase complex IPI
IPI: Inferred from physical interaction
3593587 GOA
located in mitochondrial nucleoid IDA
IDA: Inferred from direct assay
18063578 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DBT Protein Structure

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (66 - 138)

E3_binding

E3_binding: e3 binding domain (170 - 207)

2-oxoacid_dh

2-oxoacid_dh: 2-oxoacid dehydrogenases acyltransferase (catalytic domain) (250 - 479)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 482 a.a.
Protein Preferred Names Protein Names

lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

  • 52 kDa mitochondrial autoantigen of primary biliary cirrhosis

Recombinant DBT Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P74207 DBT Protein, Human (sf9, His) P11182 (G62-K482) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Maple Syrup Urine Disease

  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome
Intermediate Maple Syrup Urine Disease

  • Intermediate Bckd Deficiency

  • Intermediate Msud

  • Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Autoimmune Cholangitis

  • Autoimmune Cholangiopathy
Barth Syndrome

  • 3-Methylglutaconic Aciduria Type 2

  • BTHS

  • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

  • Mga Type Ii

  • Mga2

  • Mgca2

  • Mga Type 2

  • 3-Methylglutaconic Aciduria Type Ii

  • 3-Methylglutaconic Aciduria, Type Ii

  • Mga, Type Ii

  • 3-Methylglutaconicaciduria Type 2

  • 3-Methylglutaconicaciduria Type Ii

  • Taz Defect

  • 3 Methylglutaconic Aciduria, Type Ii

  • Dnajc19 Defect

  • Cardioskeletal Myopathy-Neutropenia Syndrome

  • X-Linked Cardioskeletal Myopathy And Neutropenia

  • 3-Alpha-Methylglutaconic Aciduria Type 2

  • Agm2

  • Cardioskeletal Myopathy-Neutropenia

  • Invm

  • Left Ventricular Non-Compaction Isolated X-Linked

  • Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

  • Agammaglobulinemia 2, Autosomal Recessive
Shipyard Eye

  • Epidemic Keratoconjunctivitis

  • Ekc
Primary Biliary Cholangitis

  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname Wirkung
Reinheit Phase
HY-109195 Vebicorvir Inhibitor 99.43% Phase 2

Pre-clinical Phase

Bioactive Molecules (5)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-B0973 Dibenzothiophene Inhibitor 99.92% Unkown
HY-156746 DBt-10 Degrader / Unkown
HY-RS03554 DBT Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17320 Dbt Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23775 Dbt Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris DBT VGNC VGNC:39787
Bos taurus DBT VGNC VGNC:27896
Mus musculus DBT MGD MGI:105386
Rattus norvegicus DBT RGD RGD:68403
Macaca mulatta DBT VGNC VGNC:71744
Felis catus DBT VGNC VGNC:61351
Others DBT NCBI