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Aliases for LDHA Gene

Aliases for LDHA Gene

  • Lactate Dehydrogenase A 2 3 5
  • Cell Proliferation-Inducing Gene 19 Protein 3 4
  • Renal Carcinoma Antigen NY-REN-59 3 4
  • LDH Muscle Subunit 3 4
  • LDH-A 3 4
  • LDH-M 3 4
  • Epididymis Secretory Sperm Binding Protein Li 133P 3
  • L-Lactate Dehydrogenase A Chain 3
  • Proliferation-Inducing Gene 19 3
  • Lactate Dehydrogenase M 3
  • EC 4
  • HEL-S-133P 3
  • GSD11 3
  • PIG19 3
  • LDHM 3

External Ids for LDHA Gene

Previous GeneCards Identifiers for LDHA Gene

  • GC11P019537
  • GC11P019358
  • GC11P018455
  • GC11P018380
  • GC11P018372
  • GC11P018101

Summaries for LDHA Gene

Entrez Gene Summary for LDHA Gene

  • The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for LDHA Gene

LDHA (Lactate Dehydrogenase A) is a Protein Coding gene. Diseases associated with LDHA include Fanconi-Bickel Syndrome and Myoglobinuria. Among its related pathways are Cori Cycle and Central carbon metabolism in cancer. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-lactate dehydrogenase activity. An important paralog of this gene is LDHC.

Tocris Summary for LDHA Gene

  • Lactate Dehydrogenase A (LDHA; LDH5), EC, is one of five isoforms of the lactate dehydrogenase family. It catalyzes the conversion of pyruvate to lactate under anaerobic conditions and is key in the altered glycolytic metabolism that is a feature of cancer cells.

Gene Wiki entry for LDHA Gene

Additional gene information for LDHA Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDHA Gene

Genomics for LDHA Gene

GeneHancer (GH) Regulatory Elements for LDHA Gene

Promoters and enhancers for LDHA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J018392 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 660.9 +0.3 323 5 CLOCK ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A SSRP1 LDHA LDHC SAAL1 GTF2H1 SPTY2D1 ENSG00000256006
GH11J018328 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.7 -64.4 -64361 2.6 PKNOX1 ARNT IRF4 NCOA2 GATA2 FOS ATF7 RUNX3 JUNB NCOA1 GTF2H1 LDHA LDHC HPS5 LOC105376577
GH11J018525 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 +132.6 132553 2.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TSG101 GC11P018527 GTF2H1 SAAL1 LDHC LDHA HPS5 SPTY2D1OS LOC100129966 ENSG00000256361
GH11J018382 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -10.3 -10304 3 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ZFP91 ATF7 FOS LDHC SPTY2D1 SAAL1 ENSG00000256361 ENSG00000256588 TSG101 LDHA LDHAL6A HPS5 MIR3159
GH11J018309 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 -81.7 -81707 5.4 FOXA2 ZFP64 BATF IRF4 RFX5 YY1 RCOR1 ETV6 IKZF2 RUNX3 GTF2H1 SPTY2D1 SAAL1 ENSG00000256361 LDHA LDHC HPS5 SERGEF RNA5SP334
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LDHA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LDHA gene promoter:
  • deltaCREB
  • CREB
  • POU2F1a
  • POU2F1

Genomic Locations for LDHA Gene

Genomic Locations for LDHA Gene
14,038 bases
Plus strand
14,038 bases
Plus strand

Genomic View for LDHA Gene

Genes around LDHA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LDHA Gene

Proteins for LDHA Gene

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

    Protein Symbol:
    Recommended name:
    L-lactate dehydrogenase A chain
    Protein Accession:
    Secondary Accessions:
    • B4DKQ2
    • B7Z5E3
    • D3DQY3
    • F8W819
    • Q53G53
    • Q6IBM7
    • Q6ZNV1
    • Q9UDE8
    • Q9UDE9

    Protein attributes for LDHA Gene

    332 amino acids
    Molecular mass:
    36689 Da
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for LDHA Gene

    Alternative splice isoforms for LDHA Gene


neXtProt entry for LDHA Gene

Post-translational modifications for LDHA Gene

  • ISGylated.
  • Ubiquitination at posLast=2727, isoforms=3, 4328, isoforms=3, 4318, isoforms=3, 4278, posLast=132132, isoforms=2, 3, 5126, isoforms=2, 3, 5118, isoforms=2, 3, 4, 576, posLast=5959, posLast=1414, and posLast=55
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LDHA Gene

Domains & Families for LDHA Gene

Gene Families for LDHA Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LDH/MDH superfamily. LDH family.
  • Belongs to the LDH/MDH superfamily. LDH family.
genes like me logo Genes that share domains with LDHA: view

Function for LDHA Gene

Molecular function for LDHA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(S)-lactate + NAD(+) = pyruvate + NADH.
GENATLAS Biochemistry:
lactate dehydrogenase A,glycolysis,energy pathway,putative up-regulated c-Myc target gene,

Enzyme Numbers (IUBMB) for LDHA Gene

Phenotypes From GWAS Catalog for LDHA Gene

Gene Ontology (GO) - Molecular Function for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004457 lactate dehydrogenase activity IEA --
GO:0004459 L-lactate dehydrogenase activity TAS,NAS 1953713
GO:0005515 protein binding IPI 23523103
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with LDHA: view
genes like me logo Genes that share phenotypes with LDHA: view

Human Phenotype Ontology for LDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDHA Gene

MGI Knock Outs for LDHA:
  • Ldha Ldha<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for LDHA Gene

miRTarBase miRNAs that target LDHA

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for LDHA Gene

Localization for LDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDHA Gene


Subcellular locations from

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 LDHA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LDHA: view

Pathways & Interactions for LDHA Gene

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

UniProtKB/Swiss-Prot P00338-LDHA_HUMAN

  • Pathway: Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

SIGNOR curated interactions for LDHA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006089 lactate metabolic process IEA --
GO:0006090 pyruvate metabolic process TAS --
GO:0006096 glycolytic process NAS 1953713
genes like me logo Genes that share ontologies with LDHA: view

Drugs & Compounds for LDHA Gene

(21) Drugs for LDHA Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Nicotinamide Approved, Investigational Nutra Target 942,946
Stiripentol Approved Pharma Target, inhibitor An LDH inhibitor 9
Copper Approved, Investigational Pharma Target 202
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • 2-Hydroxybutanoic acid
  • alpha-Hydroxybutanoic acid
  • alpha-Hydroxybutyric acid
  • 2-Hydroxybutanoate
  • 2-Hydroxybutyrate
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
3-Mercaptopyruvic acid
  • 3-mercapto-2-Oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-mercapto-2-Oxopropanoate
  • Mercaptopyruvic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton

(4) ApexBio Compounds for LDHA Gene

Compound Action Cas Number
GSK 2837808A 1445879-21-9
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Stiripentol An LDH inhibitor 49763-96-4
genes like me logo Genes that share compounds with LDHA: view

Drug Products

Transcripts for LDHA Gene

Unigene Clusters for LDHA Gene

Lactate dehydrogenase A:
Representative Sequences:

Clone Products

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

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

Relevant External Links for LDHA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LDHA Gene

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

Protein differential expression in normal tissues from HIPED for LDHA Gene

This gene is overexpressed in Tonsil (7.5).

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

Protein tissue co-expression partners for LDHA Gene

NURSA nuclear receptor signaling pathways regulating expression of LDHA Gene:


SOURCE GeneReport for Unigene cluster for LDHA Gene:


Evidence on tissue expression from TISSUES for LDHA Gene

  • Liver(5)
  • Nervous system(5)
  • Heart(4.9)
  • Intestine(4.9)
  • Muscle(4.9)
  • Eye(4.8)
  • Kidney(4.8)
  • Lung(4.8)
  • Skin(4.8)
  • Blood(4.7)
  • Stomach(4.7)
  • Bone marrow(4.5)
  • Pancreas(3.9)
  • Bone(3.6)
  • Spleen(2.7)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Gall bladder(2.1)
  • Lymph node(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • head
  • kidney
  • ureter
  • urinary bladder
  • spinal cord
genes like me logo Genes that share expression patterns with LDHA: view

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

Orthologs for LDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LDHA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LDHA 34 33
  • 99.5 (n)
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
  • 93.17 (n)
-- 34
  • 87 (a)
-- 34
  • 87 (a)
(Bos Taurus)
Mammalia LDHA 34 33
  • 91.97 (n)
(Monodelphis domestica)
Mammalia LDHA 34 34
  • 91 (a)
-- 34
  • 90 (a)
-- 34
  • 88 (a)
-- 34
  • 82 (a)
-- 34
  • 79 (a)
-- 34
  • 77 (a)
-- 34
  • 72 (a)
(Mus musculus)
Mammalia Ldha 16 34 33
  • 84.49 (n)
(Ornithorhynchus anatinus)
Mammalia LDHA 34
  • 75 (a)
(Gallus gallus)
Aves LDHA 34 33
  • 79.6 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ldha 33
  • 74.1 (n)
MGC76171 33
African clawed frog
(Xenopus laevis)
Amphibia ldha-prov 33
(Danio rerio)
Actinopterygii ldha 34 33
  • 69.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta ImpL3 34 35 33
  • 59.04 (n)
CG13334 34 35
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004880 33
  • 58.94 (n)
(Caenorhabditis elegans)
Secernentea ldh-1 34 35 33
  • 59.23 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17260 33
  • 54.56 (n)
(Oryza sativa)
Liliopsida Os02g0105400 33
  • 52.44 (n)
(Zea mays)
Liliopsida Zm.10337 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11301 34
  • 56 (a)
Cin.3533 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3533 33
Species where no ortholog for LDHA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 LDHA Gene

Gene Tree for LDHA (if available)
Gene Tree for LDHA (if available)
Evolutionary constrained regions (ECRs) for LDHA: view image

Paralogs for LDHA Gene

Paralogs for LDHA Gene

(5) SIMAP similar genes for LDHA Gene using alignment to 11 proteins:

  • F5H5J4_HUMAN
  • F5H6W8_HUMAN
  • F5H8H6_HUMAN
genes like me logo Genes that share paralogs with LDHA: view

Variants for LDHA Gene

Sequence variations from dbSNP and Humsavar for LDHA Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs11553870 uncertain-significance, Glycogen storage disease XI 18,396,899(+) C/A/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs121912479 uncertain-significance, Glycogen storage disease XI 18,407,267(+) G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs137996815 uncertain-significance, likely-benign, Glycogen storage disease XI, not specified 18,405,515(+) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs141158742 likely-benign, Lactate dehydrogenase deficiency type A 18,403,797(+) G/C coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs144317385 likely-benign, Glycogen storage disease XI 18,407,863(+) C/T 3_prime_UTR_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv982991 CNV duplication 23825009
nsv553633 CNV gain 21841781
nsv510999 OTHER complex 20534489
nsv509392 CNV insertion 20534489
nsv39368 CNV deletion 16902084
nsv1127164 CNV deletion 24896259
nsv1070941 CNV deletion 25765185
esv2744169 CNV deletion 23290073

Variation tolerance for LDHA Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDHA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LDHA Gene

MalaCards: The human disease database

(15) MalaCards diseases for LDHA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fanconi-bickel syndrome
  • fbs
lactate dehydrogenase deficiency
  • deficiency of lactate dehydrogenase
malignant germ cell tumor
  • germ cell cancer
subendocardial myocardial infarction
- elite association - COSMIC cancer census association via MalaCards
Search LDHA in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 11 (GSD11) [MIM:612933]: A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. {ECO:0000269 PubMed:2334430}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LDHA Gene

myoglobinuria,exertional and/or excessive fatigability

Additional Disease Information for LDHA

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

Publications for LDHA Gene

  1. Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder. (PMID: 12555229) Philibert RA … Coryell WH (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003) 3 22 44 58
  2. Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit. (PMID: 1445373) Sudo K … Toriumi J (Biochemistry international 1992) 3 4 22 58
  3. Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification. (PMID: 1959923) Maekawa M … Kanno T (Human genetics 1991) 3 4 22 58
  4. Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. (PMID: 1953713) Maekawa M … Kanno T (Biochemical and biophysical research communications 1991) 3 4 22 58
  5. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. (PMID: 2334430) Maekawa M … Li SS (Biochemical and biophysical research communications 1990) 3 4 22 58

Products for LDHA Gene

Sources for LDHA Gene