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
Saccharomyces cerevisiae: KGD2

Studies (3)

Significant/Non-significant: 2/1

Study 1

Longevity Association

Non-significant

Population

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

Reference

Study 2

Longevity Association

Population

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

Reference

Study 3

Longevity Association

Population

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

Reference