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DBT / E2
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.
| Gene Name: | dihydrolipoamide branched chain transacylase E2 |
| Synonyms: | DBT, BCKAD E2 subunit, BCKAD-E2, BCKADE2, Dihydrolipoyl transacylase, E2, E2B, BCATE2 |
| Target Sequences: | NM_001918 NP_001909.3 P11182 |
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