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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. Additionally we are shipping DBT Antibodies (28) and DBT Kits (9) and many more products for this protein.
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The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved.
Deletion in DBT gene is associated with maple syrup urine disease.
4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein
in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA (show BCKDHA Proteins) gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB (show BCKDHB Proteins) & DBT genes
30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA (show BCKDHA Proteins), 5 in BCKDHB (show BCKDHB Proteins) and 6 in DBT); 7 of are described for the first time.
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.
In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA (show BCKDHA Proteins) gene, in 44% (14 patients) in the BCKDHB (show BCKDHB Proteins) gene and in 19% (6 patients) in the DBT gene.
two novel type IB MSUD mutations in Israeli patients, which affect the E1beta (show PDHB Proteins) subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex
Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population.
que mutant larvae exhibit a progressive locomotor defect that culminates in unusual nose-to-tail compressions and an inability to swim. Peripheral nerve recordings demonstrate abnormal locomotor output to the axial muscles used for swimming.
This gating mechanism synchronizes the binding of the two substrates to the active-site channel, which serves as a feed-forward switch to coordinate the E2b-catalyzed acyltransfer reaction.
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.
lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial
, dihydrolipoamide branched chain transacylase E2
, BCKAD E2 subunit
, E2 component of branched chain alpha-keto acid dehydrogenase complex
, branched chain acyltransferase, E2 component
, branched-chain alpha-keto acid dehydrogenase complex component E2
, dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex
, dihydrolipoyl transacylase
, dihydrolipoyllysine-residue (2-methylpropanoyl)transferase
, lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex
, mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)
, BCKAD E2
, branched-chain alpha-ketoacid dehydrogenase, E2 subunit
, part of the BCKAD complex
, mitochondrial branched-chain alpha-keto acid dihydrolipoyl acyltransferase
, component of branched chain keto acid dehydrogenase complex