LongevityMap variant group

Entry Details

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.

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

HGNC symbol: DLD
Aliases: E3; LAD; DLDD; DLDH; GCSL; PHE3
Common name: dihydrolipoamide dehydrogenase
Description: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene: 2
OMIM: 238331
Ensembl: ENSG00000091140
UniProt/Swiss-Prot: A0A024R713_HUMAN
Entrez Gene: 1738
UniGene: 131711
HapMap: View on HapMap

GenAge model organism genes

HGNC symbol: UBE4B
Aliases: E4; UFD2; HDNB1; UBOX3; UFD2A
Common name: ubiquitination factor E4B
Description: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene: 3
OMIM: 613565
Ensembl: ENSG00000130939
UniProt/Swiss-Prot: UBE4B_HUMAN
Entrez Gene: 10277
UniGene: 593974
HapMap: View on HapMap

GenAge model organism genes

Garatachea et al. (2014)