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DBT - dihydrolipoamide branched chain transacylase E2
- Synonym(s) : dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
- Previous symbols and names : dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)
- Type : gene with protein product
- Chromosomal location : 1p21.2
- OMIM: 248610
- HGNC: 2698
- UniProtKB: P11182
- Genatlas: DBT
- Ensembl: ENSG00000137992
- IUPHAR-DB: -
- Reactome: P11182
- LOVD: DBT
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Classic maple syrup urine disease
ORPHA:268145 
- Disease-causing germline mutation(s) (loss of function) in Intermediate maple syrup urine disease
ORPHA:268162 - Disease-causing germline mutation(s) (loss of function) in Intermittent maple syrup urine disease
ORPHA:268173 - Disease-causing germline mutation(s) (loss of function) in Thiamine-responsive maple syrup urine disease
ORPHA:268184
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
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