DBT
dihydrolipoamide branched chain transacylase E2
Sinónimos:
BCATE2, BCKAD-E2, BCKADE2, E2, E2B
Especie:
Human DBT (1629), Mouse Dbt (13171), Rat Dbt (29611), Zebrafish dbt (541388), dog DBT (479929), chicken DBT (395374), domestic guinea pig Dbt (100731247), naked mole-rat Dbt (101722423), domestic cat DBT (101087593), Horse DBT (100050317) ...Más
ID UniProtKB:
ID del gen:
- Human(1629) 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]
- Mouse(13171) dihydrolipoamide branched chain transacylase E2
- Rat(29611) dihydrolipoamide branched chain transacylase E2
- Zebrafish(541388) dihydrolipoamide branched chain transacylase E2
- dog(479929) dihydrolipoamide branched chain transacylase E2
- chicken(395374) dihydrolipoamide branched chain transacylase E2
- domestic guinea pig(100731247) dihydrolipoamide branched chain transacylase E2
- naked mole-rat(101722423) dihydrolipoamide branched chain transacylase E2
- domestic cat(101087593) dihydrolipoamide branched chain transacylase E2
- Horse(100050317) dihydrolipoamide branched chain transacylase E2
- cow(280759) dihydrolipoamide branched chain transacylase E2
- sheep(101120981) dihydrolipoamide branched chain transacylase E2
- Domestic Rabbit(100346987) dihydrolipoamide branched chain transacylase E2
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