LongevityMap Gene

Gene details

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]
Cytogenetic Location
7q31.1
UCSC Genome Browser
View 7q31.1 on the UCSC genome browser
OMIM
238331
Ensembl
ENSG00000091140
UniProt/Swiss-Prot
A0A024R713_HUMAN
Entrez Gene
1738
UniGene
131711
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
dld-1
Danio rerio
dldh
Drosophila melanogaster
CG7430
Mus musculus
Dld
Rattus norvegicus
Dld
Saccharomyces cerevisiae
LPD1
Schizosaccharomyces pombe
dld1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as dld-1
  • A homolog of this gene for Saccharomyces cerevisiae is present as LPD1

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
E3
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
    E3
    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
      E3
      Reference