DBT - dihydrolipoamide branched chain transacylase E2 Gene

Homo sapiens

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

Gene ID: 1629 | Gene type: protein coding

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

DBT Protein Structure

Biotin_lipoyl

E3_binding

2-oxoacid_dh

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

Cat. No.	Product Name	Accession	Purity
HY-P74207	DBT Protein, Human (sf9, His)	P11182 (G62-K482)	≥95%

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109195	Vebicorvir	Inhibitor	99.73%	Unkown
HY-B0973	Dibenzothiophene		99.47%	Unkown
HY-156746	DBt-10	Degrader	/	Unkown
HY-RS03554	DBT Human Pre-designed siRNA Set A		/	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

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