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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 58
  • 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 58
  • 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 Citrate cycle (TCA cycle) 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 an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). In monomeric form has additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).

Gene Wiki entry for DLD Gene

Additional gene information for DLD Gene

No data available for CIViC summary , 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
GH07H107945 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 6.7 +58.9 58889 9 PKNOX1 FOXA2 SIN3A YY1 FOS PPARG NFIL3 MAFF RCOR2 STAT3 LAMB4 ENSG00000273055 DLD CBLL1 SLC26A3 GC07M107948
GH07H107890 1.4 ENCODE dbSUPER 7.9 +0.6 594 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBLL1 THAP5 DLD ENSG00000273055
GH07H107932 1.2 FANTOM5 ENCODE dbSUPER 7.4 +43.0 42988 3 REST ZFHX2 JUND POLR2A EGR1 MYNN SCRT2 POU5F1 RCOR1 PRDM4 CBLL1 DLD ENSG00000273055 NRCAM LAMB1
GH07H107937 1.1 Ensembl ENCODE dbSUPER 6.9 +48.3 48336 4 PRDM6 JUND POLR2A JUN HLF NFE2 NR2F2 DLD ENSG00000273055
GH07H107920 1 ENCODE dbSUPER 7.1 +29.8 29797 0 INSM2 FEZF1 ZNF316 MAFK ZNF680 GFI1B NR2F1 OVOL3 ZEB2 TSHZ1 DLD ENSG00000273055
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000216613 331 1800 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

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 (PubMed:15946682). Part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (subunits PDH1A and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (PubMed:14638692). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules (by non covalent bonds) (PubMed:14638692, PubMed:20361979). Interacts with PDHX (PubMed:20385101, PubMed:16442803, PubMed:20160912, PubMed:20361979).
    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

  • Tyrosine phosphorylated.
  • Ubiquitination at posLast=104104, posLast=132132, isoforms=2, 3143, and isoforms=2, 3440
  • Modification sites at PhosphoSitePlus

Domains & Families for DLD Gene

Gene Families for DLD Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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

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 EnzymeRegulation:
Disruption of native heterodimer state inhibits primary dihydrolipoamide dehydrogenase activity and induces serine protease activity.
UniProtKB/Swiss-Prot Function:
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). In monomeric form has additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).

Enzyme Numbers (IUBMB) for DLD Gene

Phenotypes From GWAS Catalog 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:0009055 electron carrier activity IEA --
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
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

CRISPR Products

miRNA for DLD Gene

miRTarBase miRNAs that target DLD

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLD
  • Applied Biological Materials Clones for DLD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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. Cytoplasmic vesicle, secretory vesicle, acrosome. Cell projection, cilium, flagellum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLD gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DLD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion TAS,IDA 20833797
GO:0005759 mitochondrial matrix TAS --
GO:0005929 cilium IEA --
GO:0031410 cytoplasmic vesicle 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 972
Stiripentol Approved Pharma An LDH inhibitor 9
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

Drug Products

Transcripts for DLD Gene

Unigene Clusters for DLD Gene

Dihydrolipoamide dehydrogenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLD
  • Applied Biological Materials Clones for DLD
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for DLD Gene

  • Nervous system(5)
  • Liver(4.5)
  • Kidney(3.5)
  • Intestine(2.8)
  • Heart(2.7)
  • Muscle(2.6)
  • Blood(2.5)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
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 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia DLD 33 34
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia DLD 33 34
  • 93.32 (n)
oppossum
(Monodelphis domestica)
Mammalia DLD 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dld 33
  • 90.7 (n)
mouse
(Mus musculus)
Mammalia Dld 33 16 34
  • 90.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLD 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLD 33 34
  • 80.31 (n)
lizard
(Anolis carolinensis)
Reptilia DLD 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dld 33
  • 78.59 (n)
Str.1427 33
African clawed frog
(Xenopus laevis)
Amphibia dld-prov 33
zebrafish
(Danio rerio)
Actinopterygii dldh 33 34
  • 74.13 (n)
Dr.1051 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9547 33
fruit fly
(Drosophila melanogaster)
Insecta CG7430 35 33 34
  • 60.05 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011629 33
  • 59.82 (n)
worm
(Caenorhabditis elegans)
Secernentea LLC1.3 35
  • 66 (a)
dld-1 33 34
  • 64.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LPD1 33 34 36
  • 60.55 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11154g 33
  • 59.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR512W 33
  • 56.2 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons mtLPD2 33
  • 59.78 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8079 33
rice
(Oryza sativa)
Liliopsida Os01g0328700 33
  • 57.7 (n)
Os.1506 33
barley
(Hordeum vulgare)
Liliopsida Hv.901 33
wheat
(Triticum aestivum)
Liliopsida Ta.6265 33
corn
(Zea mays)
Liliopsida Zm.8412 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4589 34
  • 73 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dld1 33
  • 60.94 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02407 33
  • 54.47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9257 33
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 Pathogenic, Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] 107,902,340(+) TTGAG(A/G)AAAAT intron-variant, reference, missense
rs121964988 Pathogenic, Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] 107,919,098(+) ACATC(C/T)GGTAA reference, missense
rs121964989 Pathogenic, Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] 107,919,212(+) CTTTT(A/G)GAGAA reference, missense
rs121964990 Pathogenic, Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] 107,915,506(+) TGCAG(G/T)GTTCA reference, missense
rs121964991 Pathogenic, Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] 107,917,404(+) AGTGA(C/T)TTACA 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

(10) MalaCards diseases for DLD Gene - From: HGMD, 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
retinal degeneration, late-onset, autosomal dominant
  • retinitis pigmentosa
lactic acidosis
  • acidosis lactic
- 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:10448086, ECO:0000269 PubMed:11687750, ECO:0000269 PubMed:12925875, ECO:0000269 PubMed:15712224, ECO:0000269 PubMed:16442803, ECO:0000269 PubMed:16770810, ECO:0000269 PubMed:17404228, ECO:0000269 PubMed:20160912, ECO:0000269 PubMed:8506365, ECO:0000269 PubMed:8968745, ECO:0000269 PubMed:9540846, 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. Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. (PMID: 17404228) Babady NE … Isaya G (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 60
  2. Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. (PMID: 16442803) Brautigam CA … Chuang DT (Structure (London, England : 1993) 2006) 3 4 22 60
  3. How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex. (PMID: 16263718) Ciszak EM … Patel MS (The Journal of biological chemistry 2006) 3 4 22 60
  4. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. (PMID: 15712224) Odièvre MH … Bonnefont JP (Human mutation 2005) 3 4 22 60
  5. Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. (PMID: 15946682) Brautigam CA … Chuang DT (Journal of molecular biology 2005) 3 4 22 60

Products for DLD Gene

  • Addgene plasmids for DLD

Sources for DLD Gene

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