Dec 24, 2024 · DBT (Dihydrolipoamide Branched Chain Transacylase E2) is a Protein Coding gene. Diseases associated with DBT include Maple Syrup Urine Disease, Type Ii and Maple Syrup Urine Disease, Type Ia. Among its related pathways are Leucine, isoleucine and valine metabolism and 2-oxobutanoate degradation.

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 DBT gene provides instructions for making part of a group of enzymes called the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex. Learn about this gene and related health conditions.

Sep 3, 2009 · The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase. The DBT gene encodes the E2 component.

More than 70 mutations in the DBT gene have been identified in people with maple syrup urine disease, most often in individuals with mild variants of the disorder. These variant forms become apparent later in infancy or childhood, and they lead to delayed development and other health problems if not treated.

Gene ID: 1629, updated on 8-Feb-2025. 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.

Dec 10, 2024 · 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.

Nov 3, 2016 · Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment. Title: Early diagnosis of maple syrup urine disease using polymerase chain …

DBT - dihydrolipoamide branched chain transacylase E2 Synonym(s): BCKAD-E2, BCKDH-E2, BCOADC-E2, branched chain 2-oxo-acid dehydrogenase complex component E2, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

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.