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Aliases for DLD Gene

Aliases for DLD Gene

  • Dihydrolipoamide Dehydrogenase 2 3 4 5
  • Glycine Cleavage System L Protein 3 4
  • EC 4 63
  • GCSL 3 4
  • PHE3 3 4
  • LAD 3 4
  • Dihydrolipoamide Dehydrogenase (E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex) 2
  • E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex 3
  • E3 Component Of Pyruvate Dehydrogenase Complex 2
  • Branched Chain Keto Acid Dehydrogenase Complex 2
  • Glycine Cleavage System Protein L 3
  • 2-Oxo-Glutarate Complex 2
  • Lipoamide Dehydrogenase 3
  • Lipoyl Dehydrogenase 3
  • Lipoamide Reductase 3
  • Diaphorase 3
  • EC 1.8.1 63
  • DLDD 3
  • DLDH 3
  • E3 3

External Ids for DLD Gene

Previous HGNC Symbols for DLD Gene

  • LAD
  • GCSL

Previous GeneCards Identifiers for DLD Gene

  • GC07P106015
  • GC07P107078
  • GC07P107092
  • GC07P107125
  • GC07P107318
  • GC07P107531
  • GC07P101894

Summaries for DLD Gene

Entrez Gene Summary for DLD Gene

  • 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]

GeneCards Summary for DLD Gene

DLD (Dihydrolipoamide Dehydrogenase) is a Protein Coding gene. Diseases associated with DLD include Dihydrolipoamide Dehydrogenase Deficiency and Leukocyte Adhesion Deficiency. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor.

UniProtKB/Swiss-Prot for DLD Gene

  • Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.

Gene Wiki entry for DLD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLD Gene

Genomics for DLD Gene

Regulatory Elements for DLD Gene

Enhancers for DLD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLD on UCSC Golden Path with GeneCards custom track

Promoters for DLD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLD on UCSC Golden Path with GeneCards custom track

Genomic Location for DLD Gene

107,890,970 bp from pter
107,931,730 bp from pter
40,761 bases
Plus strand

Genomic View for DLD Gene

Genes around DLD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLD Gene

Proteins for DLD Gene

  • Protein details for DLD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dihydrolipoyl dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R5X0
    • B4DHG0
    • B4DT69
    • Q14131
    • Q14167
    • Q59EV8
    • Q8WTS4

    Protein attributes for DLD Gene

    509 amino acids
    Molecular mass:
    54177 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds.
    • The active site is a redox-active disulfide bond.
    • Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLD Gene

    Alternative splice isoforms for DLD Gene


neXtProt entry for DLD Gene

Proteomics data for DLD Gene at MOPED

Post-translational modifications for DLD Gene

Domains & Families for DLD Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
genes like me logo Genes that share domains with DLD: view

No data available for Gene Families for DLD Gene

Function for DLD Gene

Molecular function for DLD Gene

GENATLAS Biochemistry:
dihydrolipoyl dehydrogenase (E3 component of pyruvate,2-oxo-ketoglutarate and branched chain keto acid dehydrogenase complexes),inner mitochondrial membrane
UniProtKB/Swiss-Prot CatalyticActivity:
Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH.
UniProtKB/Swiss-Prot Function:
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.

Enzyme Numbers (IUBMB) for DLD Gene

genes like me logo Genes that share phenotypes with DLD: view

Human Phenotype Ontology for DLD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLD Gene

MGI Knock Outs for DLD:

Animal Model Products

miRNA for DLD Gene

miRTarBase miRNAs that target DLD

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DLD Gene

Localization for DLD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLD Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for DLD Gene COMPARTMENTS Subcellular localization image for DLD gene
Compartment Confidence
mitochondrion 5
nucleus 5
chloroplast 2
cytosol 2
vacuole 2

Gene Ontology (GO) - Cellular Components for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with DLD: view

Pathways & Interactions for DLD Gene

genes like me logo Genes that share pathways with DLD: view

Gene Ontology (GO) - Biological Process for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
GO:0006554 lysine catabolic process TAS --
GO:0007369 gastrulation IEA --
genes like me logo Genes that share ontologies with DLD: view

No data available for SIGNOR curated interactions for DLD Gene

Drugs & Compounds for DLD Gene

(20) Drugs for DLD Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 906
Trilostane Approved, Investigational, Withdrawn Pharma 2
Pyruvic acid Approved Nutra 0
Succinyl-CoA Experimental Pharma 0

(20) Additional Compounds for DLD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-Octanamide
  • 6,8-Dimercaptooctanamide
  • 6,8-Disulfanyloctanamide
  • Dihydrolipoamide
  • 1,2-Dithiolane-3-pentanamide
  • 5-(1,2-Dithiolan-3-yl)-pentanamide
  • 5-(1,2-Dithiolan-3-yl)pentanamide
  • 5-(1,2-Dithiolan-3-yl)valeramide
  • 5-(Dithiolan-3-yl)valeramide
2-Hydroxybutyric acid
  • (RS)-2-Hydroxybutyrate
  • (RS)-2-Hydroxybutyric acid
  • 2-Hydroxy-Butanoate
  • 2-Hydroxy-Butanoic acid
  • 2-Hydroxy-DL-Butyrate
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononate
  • 2-Keto-3-deoxy-D-glycero-D-galacto-nononic acid
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonate
  • 2-Oxo-3-deoxy-D-glycero-galactononulosonic acid
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A

(7) ApexBio Compounds for DLD Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with DLD: view

Transcripts for DLD Gene

Unigene Clusters for DLD Gene

Dihydrolipoamide dehydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DLD Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - - - -
SP2: - -
SP3: - - - - - -
SP4: - - -
SP5: - -
SP6: -
SP7: - - -
SP8: -

Relevant External Links for DLD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLD Gene

mRNA expression in normal human tissues for DLD Gene

mRNA differential expression in normal tissues according to GTEx for DLD Gene

This gene is overexpressed in Heart - Left Ventricle (x5.1).

Protein differential expression in normal tissues from HIPED for DLD Gene

This gene is overexpressed in Heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DLD Gene

SOURCE GeneReport for Unigene cluster for DLD Gene Hs.131711

genes like me logo Genes that share expression patterns with DLD: view

Protein tissue co-expression partners for DLD Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DLD Gene

Orthologs for DLD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DLD 35
  • 93.32 (n)
  • 97.45 (a)
DLD 36
  • 97 (a)
(Canis familiaris)
Mammalia DLD 35
  • 93.98 (n)
  • 98.04 (a)
DLD 36
  • 98 (a)
(Mus musculus)
Mammalia Dld 35
  • 90.57 (n)
  • 94.89 (a)
Dld 16
Dld 36
  • 95 (a)
(Pan troglodytes)
Mammalia DLD 35
  • 99.67 (n)
  • 100 (a)
DLD 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Dld 35
  • 90.7 (n)
  • 94.7 (a)
(Monodelphis domestica)
Mammalia DLD 36
  • 92 (a)
(Ornithorhynchus anatinus)
Mammalia DLD 36
  • 87 (a)
(Gallus gallus)
Aves DLD 35
  • 80.31 (n)
  • 89.57 (a)
DLD 36
  • 90 (a)
(Anolis carolinensis)
Reptilia DLD 36
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dld 35
  • 78.59 (n)
  • 86.44 (a)
Str.1427 35
African clawed frog
(Xenopus laevis)
Amphibia dld-prov 35
(Danio rerio)
Actinopterygii dldh 35
  • 74.13 (n)
  • 84.36 (a)
Dr.1051 35
dldh 36
  • 83 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9547 35
fruit fly
(Drosophila melanogaster)
Insecta CG7430 37
  • 67 (a)
CG7430 35
  • 60.05 (n)
  • 68.92 (a)
CG7430 36
  • 67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011629 35
  • 59.82 (n)
  • 70.67 (a)
(Caenorhabditis elegans)
Secernentea LLC1.3 37
  • 66 (a)
dld-1 35
  • 64.41 (n)
  • 72.67 (a)
dld-1 36
  • 71 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR512W 35
  • 56.2 (n)
  • 60.82 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11154g 35
  • 59.76 (n)
  • 58.1 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LPD1 35
  • 60.55 (n)
  • 58.75 (a)
LPD1 36
  • 55 (a)
LPD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons mtLPD2 35
  • 59.78 (n)
  • 58.28 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8079 35
(Hordeum vulgare)
Liliopsida Hv.901 35
(Oryza sativa)
Liliopsida Os.1506 35
Os01g0328700 35
  • 57.7 (n)
  • 56.26 (a)
(Triticum aestivum)
Liliopsida Ta.6265 35
(Zea mays)
Liliopsida Zm.8412 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9257 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02407 35
  • 54.47 (n)
  • 56.66 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dld1 35
  • 60.94 (n)
  • 59.23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4589 36
  • 73 (a)
Species with no ortholog for DLD:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DLD Gene

Gene Tree for DLD (if available)
Gene Tree for DLD (if available)

Paralogs for DLD Gene

(3) SIMAP similar genes for DLD Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DLD: view

No data available for Paralogs for DLD Gene

Variants for DLD Gene

Sequence variations from dbSNP and Humsavar for DLD Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_006907 Dihydrolipoamide dehydrogenase deficiency (DLDD)
VAR_006908 Dihydrolipoamide dehydrogenase deficiency (DLDD)
rs17624 - 107,916,909(+) TTGAA(C/G)TAGAT reference, missense
VAR_015820 Dihydrolipoamide dehydrogenase deficiency (DLDD)
VAR_015821 Dihydrolipoamide dehydrogenase deficiency (DLDD)

Structural Variations from Database of Genomic Variants (DGV) for DLD Gene

Variant ID Type Subtype PubMed ID
nsv831088 CNV Loss 17160897
esv34192 CNV Loss 18971310
esv259654 OTHER Complex 20981092

Variation tolerance for DLD Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLD Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLD Gene

Disorders for DLD Gene

MalaCards: The human disease database

(11) MalaCards diseases for DLD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dihydrolipoamide dehydrogenase deficiency
  • dld deficiency
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
dihydrolipoamide dehydrogenase e3 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
alpha-ketoglutarate dehydrogenase deficiency
  • 2 alpha ketoglutarate dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search DLD in MalaCards View complete list of genes associated with diseases


  • Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. {ECO:0000269 PubMed:8506365, ECO:0000269 PubMed:8968745, ECO:0000269 PubMed:9934985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DLD Gene

lactate acidosis,congenital,with elevated branched chain aminoacids presenting as Leigh syndrome characterized by lactate acidosis bilaterally symmetrical necrotic lesions in the brainstem,basal ganglia,thalamus and spinal cord,occuring predominantly in infants

Relevant External Links for DLD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DLD: view

Publications for DLD Gene

  1. Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PMID: 16442803) Brautigam C.A. … Chuang D.T. (Structure 2006) 3 4 23 67
  2. The role of amino acids T148 and R281 in human dihydrolipoamide dehydrogenase. (PMID: 17960497) Wang Y.C. … Liu T.C. (J. Biomed. Sci. 2008) 3 23
  3. The role of N286 and D320 in the reaction mechanism of human dihydrolipoamide dehydrogenase (E3) center domain. (PMID: 17171578) Wang Y.C. … Liu T.C. (J. Biomed. Sci. 2007) 3 23
  4. Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. (PMID: 17404228) Babady N.E. … Isaya G. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23
  5. A novel branched-chain amino acid metabolon. Protein-protein interactions in a supramolecular complex. (PMID: 17314104) Islam M.M. … Hutson S.M. (J. Biol. Chem. 2007) 23 25

Products for DLD Gene

Sources for DLD Gene