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Aliases for DLD Gene

Aliases for DLD Gene

  • Dihydrolipoamide Dehydrogenase 2 3 4 5
  • E3 Component Of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex 2 3
  • Glycine Cleavage System L Protein 3 4
  • EC 1.8.1.4 4 61
  • 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
  • Dihydrolipoyl Dehydrogenase, Mitochondrial 3
  • Glycine Cleavage System Protein L 3
  • Lipoamide Dehydrogenase 3
  • Lipoyl Dehydrogenase 3
  • Lipoamide Reductase 3
  • Diaphorase 3
  • EC 1.8.1 61
  • 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 Dihydrolipoamide Dehydrogenase E3 Deficiency. Among its related pathways are Glycine, serine and threonine metabolism and Metabolism. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F107890 0.5 ENCODE 7.9 +0.6 594 2.8 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CBLL1 THAP5 DLD ENSG00000273055
GH07F107932 1.2 FANTOM5 Ensembl ENCODE 7.4 +43.0 42988 3.9 HDAC1 TEAD4 SIN3A FEZF1 REST ZFHX2 ZNF318 JUND POLR2A BCL11A CBLL1 DLD ENSG00000273055 NRCAM LAMB1
GH07F107874 0.5 Ensembl ENCODE 7.3 -15.5 -15457 1.8 ATF1 CBX3 ZBTB40 RAD21 RFX5 GATA2 MIXL1 THAP11 ZNF654 ZBTB11 CBLL1 LOC101927974 DLD LOC105375445
GH07F107920 0.4 ENCODE 7.1 +29.8 29797 0.4 INSM2 FEZF1 ZNF316 MAFK ZNF680 GFI1B OVOL3 ZEB2 TSHZ1 ZNF843 DLD ENSG00000273055
GH07F107856 0.8 Ensembl ENCODE 6.9 -33.5 -33485 2.1 ELF3 MLX ARID4B ZNF48 ZSCAN9 RAD21 RARA GATA2 MIXL1 THAP11 CBLL1 PIGCP2 SLC26A3 LOC101927974 SLC26A4 SLC26A4-AS1 DLD LOC105375444
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001562784 530 2201 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for DLD Gene

Chromosome:
7
Start:
107,890,970 bp from pter
End:
107,931,730 bp from pter
Size:
40,761 bases
Orientation:
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:
    P09622-DLDH_HUMAN
    Recommended name:
    Dihydrolipoyl dehydrogenase, mitochondrial
    Protein Accession:
    P09622
    Secondary Accessions:
    • B2R5X0
    • B4DHG0
    • B4DT69
    • Q14131
    • Q14167
    • Q59EV8
    • Q8WTS4

    Protein attributes for DLD Gene

    Size:
    509 amino acids
    Molecular mass:
    54177 Da
    Cofactor:
    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.
    Miscellaneous:
    • The active site is a redox-active disulfide bond.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DLD Gene

Selected DME Specific Peptides for DLD Gene

P09622:
  • HPTLSEA
  • GKFPFAANSRAKTN
  • PGITIDE
  • GGYVAAI
  • TKNILIATGSEVTPFPG
  • ARVCHAHPT
  • GPMLAHKA
  • AVKALTGGIA
  • GHFNRISHGLQG
  • SDGKIDVS
  • VIYTHPE
  • DRVLGAHI
  • EAASGGKAEVITCDVLLVCIGRRPFT
  • PNIYAIGD
  • GPGGYVA
  • PEVAWVG
  • GATKKSDG
  • GCIPSKAL
  • IKAAQLG
  • QRLGADVTA
  • GRIPVNTRFQTKIPNI
  • CLNVGCIP

Post-translational modifications for DLD Gene

Domains & Families for DLD Gene

Graphical View of Domain Structure for InterPro Entry

P09622

UniProtKB/Swiss-Prot:

DLDH_HUMAN :
  • Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
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

Gene Ontology (GO) - Molecular Function for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004148 dihydrolipoyl dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016668 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor IEA --
GO:0034604 contributes_to pyruvate dehydrogenase (NAD+) activity IDA 9242632
GO:0043544 lipoamide binding IEA --
genes like me logo Genes that share ontologies with DLD: view
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLD

Flow Cytometry Products

No data available for 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

COMPARTMENTS
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:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0005929 cilium IEA --
GO:0043159 acrosomal matrix 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:0006086 acetyl-CoA biosynthetic process from pyruvate IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006103 2-oxoglutarate metabolic process IEA --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone 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

(22) 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
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 939
Stiripentol Approved Pharma An LDH inhibitor 8
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydrolipoamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-Octanamide
  • 6,8-Dimercaptooctanamide
  • 6,8-Disulfanyloctanamide
  • Dihydrolipoamide
3884-47-7
Lipoamide
  • 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
940-69-2
2-Hydroxybutyric acid
  • (RS)-2-Hydroxybutyrate
  • (RS)-2-Hydroxybutyric acid
  • 2-Hydroxy-Butanoate
  • 2-Hydroxy-Butanoic acid
  • 2-Hydroxy-DL-Butyrate
600-15-7
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
22594-61-2
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9

(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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLD

Flow Cytometry Products

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
DLD
ECgene alternative splicing isoforms for
DLD

Expression for DLD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DLD Gene



Protein tissue co-expression partners for DLD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLD Gene:

DLD

SOURCE GeneReport for Unigene cluster for DLD Gene:

Hs.131711
genes like me logo Genes that share expression patterns with DLD: view

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
chimpanzee
(Pan troglodytes)
Mammalia DLD 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia DLD 34 35
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia DLD 34 35
  • 93.32 (n)
oppossum
(Monodelphis domestica)
Mammalia DLD 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dld 34
  • 90.7 (n)
mouse
(Mus musculus)
Mammalia Dld 34 16 35
  • 90.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLD 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLD 34 35
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia DLD 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dld 34
  • 78.59 (n)
Str.1427 34
African clawed frog
(Xenopus laevis)
Amphibia dld-prov 34
zebrafish
(Danio rerio)
Actinopterygii dldh 34 35
  • 74.13 (n)
Dr.1051 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9547 34
fruit fly
(Drosophila melanogaster)
Insecta CG7430 36 34 35
  • 60.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011629 34
  • 59.82 (n)
worm
(Caenorhabditis elegans)
Secernentea LLC1.3 36
  • 66 (a)
dld-1 34 35
  • 64.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LPD1 34 35 37
  • 60.55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11154g 34
  • 59.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR512W 34
  • 56.2 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons mtLPD2 34
  • 59.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8079 34
rice
(Oryza sativa)
Liliopsida Os01g0328700 34
  • 57.7 (n)
Os.1506 34
barley
(Hordeum vulgare)
Liliopsida Hv.901 34
wheat
(Triticum aestivum)
Liliopsida Ta.6265 34
corn
(Zea mays)
Liliopsida Zm.8412 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4589 35
  • 73 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dld1 34
  • 60.94 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02407 34
  • 54.47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9257 34
Species where no ortholog for DLD was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for DLD (if available)
TreeFam:
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
rs121964987 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900], Pathogenic 107,902,340(+) TTGAG(A/G)AAAAT intron-variant, reference, missense
rs121964988 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900], Pathogenic 107,919,098(+) ACATC(C/T)GGTAA reference, missense
rs121964989 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900], Pathogenic 107,919,212(+) CTTTT(A/G)GAGAA reference, missense
rs121964990 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900], Pathogenic 107,915,506(+) TGCAG(G/T)GTTCA reference, missense
rs121964992 Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900], Pathogenic 107,917,349(+) GTGTT(A/G)AAGGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv3302680 CNV tandem duplication 20981092
esv3374767 CNV duplication 20981092
esv34192 CNV loss 18971310
nsv471995 CNV novel sequence insertion 20440878
nsv831088 CNV loss 17160897
nsv949927 CNV duplication 24416366

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)
DLD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLD

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

Disorders for DLD Gene

MalaCards: The human disease database

(7) 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
dihydrolipoamide dehydrogenase e3 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
lactic acidosis
  • acidosis lactic
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

UniProtKB/Swiss-Prot

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

Publications for DLD Gene

  1. How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PMID: 16263718) Ciszak E.M. … Patel M.S. (J. Biol. Chem. 2006) 3 4 22 64
  2. 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 22 64
  3. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. (PMID: 15946682) Brautigam C.A. … Chuang D.T. (J. Mol. Biol. 2005) 3 4 22 64
  4. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. (PMID: 9934985) Shaag A. … Elpeleg O.N. (Am. J. Med. Genet. 1999) 3 4 22 64
  5. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements. (PMID: 8406489) Feigenbaum A.S. … Robinson B.H. (Genomics 1993) 3 4 22 64

Products for DLD Gene

  • Addgene plasmids for DLD

Sources for DLD Gene

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