| Name |
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DBT Genedihydrolipoamide 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 SetFrom 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 SetFrom NURSA Protein-Protein Interactions interacting proteins for DBT from the NURSA Protein-Protein Interactions dataset. |
DBT Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for DBT from the Pathway Commons Protein-Protein Interactions dataset. |
DBT Gene SetFrom 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 Setproteins participating in the Loss-of-function mutations in DBT cause MSUD2 pathway from the Reactome Pathways 2024 dataset. |