LongevityMap Gene

Gene details

HGNC symbol
DBT 
Aliases
E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCOADC-E2 
Common name
dihydrolipoamide branched chain transacylase E2 
Description
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]
Cytogenetic Location
1p21.2
UCSC Genome Browser
View 1p21.2 on the UCSC genome browser
OMIM
248610
Ensembl
ENSG00000137992
UniProt/Swiss-Prot
ODB2_HUMAN
Entrez Gene
1629
UniGene
709187
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
ZK669.4
Danio rerio
dbt
Drosophila melanogaster
CG5599
Mus musculus
Dbt
Rattus norvegicus
Dbt

Studies (3)

Significant/Non-significant: 2/1

Study 1

Longevity Association
Non-significant
Population
Spanish
Study Design
Three most common alleles of the APOE gene were examined in three cohorts (Spanish, Italian and Japanese) to study their association with longevity.
Conclusions
E4 allele was negatively associated with longevity in three cohorts, while the E2 allele was positively associated in Italian and Japanese cohorts.
Indentifier
E2
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Italian
    Study Design
    Three most common alleles of the APOE gene were examined in three cohorts (Spanish, Italian and Japanese) to study their association with longevity.
    Conclusions
    E4 allele was negatively associated with longevity in three cohorts, while the E2 allele was positively associated in Italian and Japanese cohorts.
    Indentifier
    E2
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Japanese
      Study Design
      Three most common alleles of the APOE gene were examined in three cohorts (Spanish, Italian and Japanese) to study their association with longevity.
      Conclusions
      E4 allele was negatively associated with longevity in three cohorts, while the E2 allele was positively associated in Italian and Japanese cohorts.
      Indentifier
      E2
      Reference