Gene: DBT
Alternate names for this Gene: BCATE2|BCKAD-E2|BCKADE2|BCKDH-E2|BCOADC-E2|E2|E2B
Gene 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1p21.2
Description of this Gene: dihydrolipoamide branched chain transacylase E2
Type of Gene: protein-coding
rs12021720 in
DBT gene and
Central Nervous System Neoplasms
PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
rs12021720 in
DBT gene and
Glioma
PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
rs12021720 in
DBT gene and
Maple Syrup Urine Disease
PMID 9621512 1998 Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
PMID 1847055 1991 A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
PMID 9239422 1997 E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
PMID 14517957 2003 Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
PMID 16786533 2006 Mutational spectrum of maple syrup urine disease in Spain.
PMID 24772966 2013 Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
PMID 25255367 2015 Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
PMID 20570198 2010 In summary, the pathogenic effect of the novel mutations is depletion of cellular protein, and the intermittent form of MSUD appears to be attributed to the residual R301C mutant protein in these patients.
PMID 24394677 2014 Intermittent maple syrup urine disease: two case reports.
PMID 27518768 2016 SSIEM 2016 Annual Symposium - Abstracts : Rome, Italy, September 2016.
PMID 21098507 2011 Phenylbutyrate therapy for maple syrup urine disease.
PMID 20307994 2010 Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
PMID 18378174 2008 Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
PMID 26257134 2015 Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
PMID 8430702 1993 Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
PMID 28417071 2017 Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
PMID 16468966 2006 Elective liver transplantation for the treatment of classical maple syrup urine disease.
PMID 20639189 2010 A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.