LongevityMap variant

Entry Details

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.
Identifier
E2
In Other Studies (IDs)
2185 2186
Cytogenetic Location
1p21.2
UCSC Genome Browser
View 1p21.2 on the UCSC genome browser

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]
Other longevity studies of this gene
2
OMIM
248610
Ensembl
ENSG00000137992
UniProt/Swiss-Prot
ODB2_HUMAN
Entrez Gene
1629
UniGene
709187
HapMap
View on HapMap

Homologs in model organisms

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

References

Garatachea et al. (2014)

Other variants which are also part of this study