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

GenAge microarray genes

This gene is present as DLD

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