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
- GenAge microarray genes
- This gene is present as DLD
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