Version: 8.0.0
Date: Tue Jan 28 2025
DLD
Homo sapiensHGNC:2898
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

DLD

Species
Homo sapiens
Symbol
DLD
Name
dihydrolipoamide dehydrogenase
Synonyms
  • diaphorase
  • dihydrolipoyl dehydrogenase, mitochondrial
Biotype
protein coding gene
Automated Description
Enables dihydrolipoyl dehydrogenase activity. Contributes to branched-chain alpha-keto acid dehydrogenase activity and pyruvate dehydrogenase (NAD+) activity. Involved in acetyl-CoA biosynthetic process from pyruvate and branched-chain amino acid catabolic process. Located in mitochondrion and nucleus. Part of several cellular components, including branched-chain alpha-ketoacid dehydrogenase complex; oxoadipate dehydrogenase complex; and oxoglutarate dehydrogenase complex. Implicated in maple syrup urine disease.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22912
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusDld10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusDld10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevisdld.L1 of 1YesYes          ☑ 
Xenopus laevisdld.S1 of 1YesYes          ☑ 
Xenopus tropicalisdld5 of 9YesYes☑ ☐☐☑☑☐☑☑☐  
Danio reriodldh10 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Caenorhabditis elegansdld-19 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Saccharomyces cerevisiaeLPD19 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Cell color indicative of annotation volume
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    Gene
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    Disease
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            Data currently unavailable; sequence viewer under construction

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Must provide at least one subject
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            DLD molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              DLD role
              DLD genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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