| 68403 | Dbt | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits ubiquitin protein ligase binding (ortholog); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (ortholog); branched-chain amino acid catabolic process (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathw ay; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN mitochondrial nucleoid (ortholog); mitochondrion (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol; 6-propyl-2-thiouracil | 2 | 207166660 | 207195528 | Rat | 163 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 68592 | DBT | dihydrolipoamide branched chain transacylase E2 | 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] | 1 | 100186919 | 100249834 | Human | 296 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 68593 | Dbt | dihydrolipoamide branched chain transacylase E2 | Predicted to enable acetyltransferase activity; lipoic acid binding activity; and ubiquitin protein ligase binding activity. Predicted to contribute to branched-chain alpha-keto acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Located in mitochond rion. Is expressed in several structures, including alimentary system; central nervous system; integumental system; sensory organ; and urinary system. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human DBT (dihydrolipoamide branched chain transacylase E2). [provided by Alliance of Genome Resources, Apr 2025] | 3 | 116306776 | 116343630 | Mouse | 189 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8746034 | Dbt | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits ubiquitin protein ligase binding (ortholog); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (ortholog); branched-chain amino acid catabolic process (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathw ay; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN branched-chain alpha-ketoacid dehydrogenase complex (ortholog); mitochondrial nucleoid (ortholog); mitochondrion (ortholog) | NW_004955435 | 4975664 | 5005126 | Chinchilla | 35 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11770374 | DBT | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acetyltransferase activity (inferred); acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catabolic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrial matrix (inferred) | 1 | 102852585 | 102907146 | Bonobo | 45 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12052841 | DBT | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); transferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catab olic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytosol (inferred); mitochondrial matrix (inferred); mitochondrial nucleoid (inferred) | 6 | 49753233 | 49805493 | Dog | 41 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12521139 | Dbt | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acetyltransferase activity (inferred); acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catabolic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrial matrix (inferred) | NW_004936748 | 342655 | 386017 | Squirrel | 45 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18905084 | Dbt | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acetyltransferase activity (inferred); acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catabolic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrial matrix (inferred) | | | | Naked Mole-Rat | 44 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626041472 | Dbt | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits ubiquitin protein ligase binding (ortholog); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (ortholog); branched-chain amino acid catabolic process (ortholog); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathw ay; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN branched-chain alpha-ketoacid dehydrogenase complex (ortholog); mitochondrial nucleoid (ortholog); mitochondrion (ortholog) | | | | Black Rat | 33 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14199136 | DBT | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); transferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catab olic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytosol (inferred); mitochondrial matrix (inferred); mitochondrial nucleoid (inferred) | | | | Pig | 42 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155244264 | dbt | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 18578209 | DBT | dihydrolipoamide branched chain transacylase E2 | ENCODES a protein that exhibits acetyltransferase activity (inferred); acyltransferase activity (inferred); dihydrolipoamide branched chain acyltransferase activity (inferred); INVOLVED IN branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA (inferred); branched-chain amino acid catabolic process (inferred); PARTICIPATES IN 3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway; 3-hydroxyisobutyric aciduria pathway; 3-methylcrotonyl CoA carboxylase 1 deficiency pathway; ASSOCIATED WITH Chemical and Drug Induced Liver Injury (ortholog); genetic disease (ortholog); maple syrup urine disease (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); mitochondrial matrix (inferred) | | | | Green Monkey | 45 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14380090 | dbt-1 | | | | | | Roundworm | | symbol | gene, null |
| 155242934 | dbt.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155256396 | dbt.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 16557214 | DBTP1 | DBT pseudogene 1 | | | | | Human | | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, processed_pseudogene |
| 155638510 | DBTP1 | DBT pseudogene 1 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, pseudo |
| 16570740 | AL445928.2 | novel transcript, antisense to DBT | | | | | Human | | name | gene, lncrna |
