LongevityMap variant
Entry Details
- 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.
- Identifier
- E2
- In Other Studies (IDs)
- 2180 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