Name

DBT Gene

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]

dbt Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term dbt in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

DBT Gene Set

From NURSA Protein-Protein Interactions

interacting proteins for DBT from the NURSA Protein-Protein Interactions dataset.

DBT Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for DBT from the Pathway Commons Protein-Protein Interactions dataset.

DBT Gene Set

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the DBT gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

Loss-of-function mutations in DBT cause MSUD2 Gene Set

From Reactome Pathways 2024

proteins participating in the Loss-of-function mutations in DBT cause MSUD2 pathway from the Reactome Pathways 2024 dataset.