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DLAT Gene(Protein Coding)

Dihydrolipoamide S-Acetyltransferase

GCID:
GC11P112024
GIFtS:
57
Genes Participants
UDN Logo

Aliases for DLAT Gene

Aliases for DLAT Gene

  • Dihydrolipoamide S-Acetyltransferase 2 3 5
  • Dihydrolipoamide Acetyltransferase Component Of Pyruvate Dehydrogenase Complex 3 4
  • 70 KDa Mitochondrial Autoantigen Of Primary Biliary Cirrhosis 3 4
  • E2 Component Of Pyruvate Dehydrogenase Complex 2 3
  • Pyruvate Dehydrogenase Complex Component E2 3 4
  • M2 Antigen Complex 70 KDa Subunit 3 4
  • EC 2.3.1.12 4 56
  • PDC-E2 3 4
  • PDCE2 3 4
  • DLTA 3 4
  • PBC 3 4
  • Dihydrolipoyllysine-Residue Acetyltransferase Component Of Pyruvate Dehydrogenase Complex, Mitochondrial 3
  • EC 2.3.1 56

External Ids for DLAT Gene

Previous HGNC Symbols for DLAT Gene

  • DLTA

Previous GeneCards Identifiers for DLAT Gene

  • GC11P114248
  • GC11P113407
  • GC11P111929
  • GC11P111433
  • GC11P111401
  • GC11P107819
  • GC11P111895

Summaries for DLAT Gene

Entrez Gene Summary for DLAT Gene

  • This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

GeneCards Summary for DLAT Gene

DLAT (Dihydrolipoamide S-Acetyltransferase) is a Protein Coding gene. Diseases associated with DLAT include Pyruvate Dehydrogenase E2 Deficiency and Primary Biliary Cirrhosis. Among its related pathways are Glyoxylate metabolism and glycine degradation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and dihydrolipoyllysine-residue acetyltransferase activity. An important paralog of this gene is PDHX.

UniProtKB/Swiss-Prot for DLAT Gene

  • The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Gene Wiki entry for DLAT Gene

Additional gene information for DLAT Gene

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

Genomics for DLAT Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DLAT Gene

Promoters and enhancers for DLAT Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11I112023 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 318 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DLAT PPP2R1B FDXACB1 ALG9 PIH1D2 NKAPD1 DIXDC1 IL18 CRYAB C11orf52
GH11I112024 Enhancer 0.2 Ensembl 550.8 -1.1 -1113 0.2 DLAT NKAPD1 PIH1D2 GC11M112018
GH11I111908 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 4.7 -113.0 -113011 6.3 HDAC1 HDGF NFXL1 TCF12 GATA2 SCRT2 CREM ZNF263 ZBTB2 NCOA1 HSPB2 HSPB2-C11orf52 CRYAB PPP2R1B C11orf52 DLAT RPL37AP8
GH11I112041 Enhancer 0.8 ENCODE 10.3 +17.9 17870 1.4 HDAC1 HDGF ATF1 TEAD4 JUN E4F1 FOSL1 ZNF316 ZSCAN29 FOS PIH1D2 NKAPD1 ENSG00000255292 TIMM8B SDHD DLAT TEX12 ENSG00000271025
GH11I111997 Enhancer 0.4 Ensembl 4.5 -27.4 -27413 0.4 CTCF HNF4A DLAT ENSG00000255334 ENSG00000255286 DIXDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DLAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DLAT gene promoter:

Genomic Locations for DLAT Gene

Genomic Locations for DLAT Gene
chr11:112,024,814-112,064,390
(GRCh38/hg38)
Size:
39,577 bases
Orientation:
Plus strand
chr11:111,895,538-111,935,114
(GRCh37/hg19)

Genomic View for DLAT Gene

Genes around DLAT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DLAT Gene

Proteins for DLAT Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P10515-ODP2_HUMAN
    Recommended name:
    Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
    Protein Accession:
    P10515
    Secondary Accessions:
    • Q16783
    • Q53EP3

    Protein attributes for DLAT Gene

    Size:
    647 amino acids
    Molecular mass:
    68997 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • 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 (PubMed:14638692, PubMed:20361979). Interacts with PDK2 and PDK3 (PubMed:15861126, PubMed:17532006, PubMed:17683942, PubMed:18387944). Interacts with SIRT4 (PubMed:25525879). Interacts with PDHB (PubMed:20160912).
    SequenceCaution:
    • Sequence=AAA62253.1; Type=Frameshift; Positions=449, 451, 455; Evidence={ECO:0000305}; Sequence=AAA62253.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLAT Gene

neXtProt entry for DLAT Gene

Protein Expression for DLAT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DLAT Gene

P10515:
  • DHRVVDGA
  • VTLSCDHR
  • AIINPPQ
  • SKQTIPH
  • VDVSVAVSTPAGLITPI
  • PHEFQGGTF
  • GTFTISN
  • DHRVVDG
  • NDFIIKASALAC
  • KAREGKL

Post-translational modifications for DLAT Gene

  • Delipoylated at Lys-132 and Lys-259 by SIRT4, delipoylation decreases the PHD complex activity.

Other Protein References for DLAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DLAT Gene

Gene Families for DLAT Gene

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

Protein Domains for DLAT Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DLAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10515

UniProtKB/Swiss-Prot:

ODP2_HUMAN :
  • Belongs to the 2-oxoacid dehydrogenase family.
Family:
  • Belongs to the 2-oxoacid dehydrogenase family.
genes like me logo Genes that share domains with DLAT: view

Function for DLAT Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DLAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + enzyme N(6)-(dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-acetyldihydrolipoyl)lysine.
UniProtKB/Swiss-Prot Function:
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

Enzyme Numbers (IUBMB) for DLAT Gene

Gene Ontology (GO) - Molecular Function for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity NAS 3191998
GO:0005515 protein binding IPI 15861126
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0034604 contributes_to pyruvate dehydrogenase (NAD+) activity IDA 9242632
genes like me logo Genes that share ontologies with DLAT: view
genes like me logo Genes that share phenotypes with DLAT: view

Human Phenotype Ontology for DLAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for DLAT Gene

Localization for DLAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLAT Gene

Mitochondrion matrix.

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 DLAT gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0005967 mitochondrial pyruvate dehydrogenase complex NAS 3191998
GO:0043209 myelin sheath IEA --
GO:0045254 pyruvate dehydrogenase complex IDA,IEA 9242632
genes like me logo Genes that share ontologies with DLAT: view

Pathways & Interactions for DLAT Gene

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

Gene Ontology (GO) - Biological Process for DLAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006086 acetyl-CoA biosynthetic process from pyruvate IEA --
GO:0006090 pyruvate metabolic process IEA,TAS --
GO:0006099 tricarboxylic acid cycle IEA --
genes like me logo Genes that share ontologies with DLAT: view

No data available for SIGNOR curated interactions for DLAT Gene

Drugs & Compounds for DLAT Gene

Products:

  1. Drug

(13) Drugs for DLAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Lipoic Acid Approved, Investigational Nutra 0
Pyruvic acid Approved, Investigational Nutra 0
Dihydrolipoate Experimental Pharma Target 0

(9) Additional Compounds for DLAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
 72-89-9
Dihydrolipoamide
  • 6,8-Bis-sulfanyloctanamide
  • 6,8-Dimercapto-Octanamide
  • 6,8-Dimercaptooctanamide
  • 6,8-Disulfanyloctanamide
  • Dihydrolipoamide
 3884-47-7
S-Acetyldihydrolipoamide
  • 6-Acetylsulfanyl-8-sulfanyl-octanamide
  • 6-S-Acetyldihydrolipoamide
  • S-Acetyldihydrolipoamide
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioate
  • S-[6-Amino-6-oxo-1-(2-sulfanylethyl)hexyl] ethanethioic acid
S-Acetyldihydrolipoamide-E
  • Dihydrolipoyllysine-residue acetyltransferase]S-acetyldihydrolipoyllysine
genes like me logo Genes that share compounds with DLAT: view

Transcripts for DLAT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DLAT Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(261) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DLAT Gene

Dihydrolipoamide S-acetyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - -
SP3: - - - - - - - - -
SP4:

Relevant External Links for DLAT Gene

GeneLoc Exon Structure for
DLAT
ECgene alternative splicing isoforms for
DLAT

Expression for DLAT Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLAT Gene

mRNA expression in normal human tissues for DLAT Gene
mRNA expression by BioGPS for DLAT GenemRNA expression by GTEx for DLAT Gene

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

This gene is overexpressed in Heart - Left Ventricle (x5.6) and Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for DLAT Gene

This gene is overexpressed in Heart (18.7) and Nasal epithelium (13.8).

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



Protein tissue co-expression partners for DLAT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DLAT Gene:

DLAT

SOURCE GeneReport for Unigene cluster for DLAT Gene:

Hs.335551

Evidence on tissue expression from TISSUES for DLAT Gene

  • Liver(4.6)
  • Kidney(4.3)
  • Nervous system(4.1)
  • Heart(2.5)
  • Blood(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • salivary gland
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DLAT: 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 DLAT Gene

Orthologs for DLAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DLAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DLAT 33 34
  • 99.28 (n)
cow
(Bos Taurus)
 Mammalia DLAT 33
  • 90.42 (n)
-- 34
  • 90 (a)
 OneToMany
-- 34
  • 78 (a)
 OneToMany
-- 34
  • 74 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia DLAT 33 34
  • 90.37 (n)
mouse
(Mus musculus)
 Mammalia Dlat 33 16 34
  • 84.84 (n)
oppossum
(Monodelphis domestica)
 Mammalia DLAT 34
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DLAT 34
  • 84 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Dlat 33
  • 83.65 (n)
chicken
(Gallus gallus)
 Aves DLAT 33 34
  • 72.91 (n)
lizard
(Anolis carolinensis)
 Reptilia DLAT 34
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dlat 33
  • 69.41 (n)
Str.13849 33
African clawed frog
(Xenopus laevis)
 Amphibia LOC398314 33
zebrafish
(Danio rerio)
 Actinopterygii dlat 33 34
  • 71.42 (n)
Dr.2810 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10771 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007975 33
  • 56.51 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG5261 35 33
  • 56.42 (n)
worm
(Caenorhabditis elegans)
 Secernentea dlat-1 33
  • 58.91 (n)
F23B12.5 35
  • 53 (a)
C30H6.7 35
  • 39 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F04741g 33
  • 52.69 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AER364W 33
  • 51.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes LAT1 33 36
  • 50.65 (n)
KGD2 34
  • 26 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G54220 33
  • 53.91 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0410100 33
  • 52.84 (n)
corn
(Zea mays)
 Liliopsida Zm.455 33
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes lat1 33
  • 53.4 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8267 34
  • 53 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU07659 33
  • 51.74 (n)
Species where no ortholog for DLAT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DLAT Gene

ENSEMBL:
Gene Tree for DLAT (if available)
TreeFam:
Gene Tree for DLAT (if available)

Paralogs for DLAT Gene

Paralogs for DLAT Gene

(1) SIMAP similar genes for DLAT Gene using alignment to 6 proteins:

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

Variants for DLAT Gene

Sequence variations from dbSNP and Humsavar for DLAT Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1052569726 uncertain-significance, Pyruvate dehydrogenase complex deficiency 112,025,090(+) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs10891314 likely-benign, benign, not specified, Pyruvate dehydrogenase complex deficiency 112,045,923(+) G/A/T coding_sequence_variant, intron_variant, missense_variant
rs114863504 likely-benign, Pyruvate dehydrogenase complex deficiency 112,024,836(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs115067052 likely-benign, Pyruvate dehydrogenase complex deficiency 112,025,317(+) C/G 5_prime_UTR_variant
rs11553595 benign, likely-benign, not specified, Pyruvate dehydrogenase complex deficiency 112,028,911(+) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2662119 CNV deletion 23128226
esv2745077 CNV deletion 23290073
esv3627749 CNV loss 21293372

Variation tolerance for DLAT Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.30; 98.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLAT Gene

Human Gene Mutation Database (HGMD)
DLAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLAT

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

Disorders for DLAT Gene

MalaCards: The human disease database

(14) MalaCards diseases for DLAT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DLAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ODP2_HUMAN
  • Note=Primary biliary cirrhosis is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. Patients with primary biliary cirrhosis show autoantibodies against the E2 component of pyruvate dehydrogenase complex.
  • Pyruvate dehydrogenase E2 deficiency (PDHE2 deficiency) [MIM:245348]: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. {ECO:0000269 PubMed:16049940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DLAT

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

No data available for Genatlas for DLAT Gene

Publications for DLAT Gene

  1. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. (PMID: 16049940) Head RA … Brown GK (Annals of neurology 2005) 3 4 22 58
  2. Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components. (PMID: 14638692) Hiromasa Y … Roche TE (The Journal of biological chemistry 2004) 3 4 22 58
  3. Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity. (PMID: 25525879) Mathias RA … Cristea IM (Cell 2014) 3 4 58
  4. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58
  5. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PMID: 20673868) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58

Products for DLAT Gene

Sources for DLAT Gene

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