LDHA Gene (Protein Coding)

Lactate Dehydrogenase A

GC11P018394
GIFtS:
52
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 ... See more...

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
  • L-Lactate Dehydrogenase A Chain 3 4
  • LDH Muscle Subunit 3 4
  • EC 1.1.1.27 4 51
  • LDH-A 3 4
  • LDH-M 3 4
  • Epididymis Secretory Sperm Binding Protein Li 133P 3
  • Proliferation-Inducing Gene 19 3
  • Lactate Dehydrogenase M 3
  • HEL-S-133P 3
  • EC 1.1.1 51
  • GSD11 3
  • PIG19 3
  • LDHM 3
  • LDHA 5

External Ids for LDHA Gene

Previous GeneCards Identifiers for LDHA Gene

  • GC11P019537
  • GC11P019358
  • GC11P018455
  • GC11P018380
  • GC11P018372
  • GC11P018101
  • GC11P018415

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 Central carbon metabolism in cancer and Cori Cycle. 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 1.1.1.27, 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 Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LDHA Gene

Genomics for LDHA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LDHA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LDHA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDHA

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

Genomic Locations for LDHA Gene

Latest Assembly
chr11:18,394,560-18,408,425
(GRCh38/hg38)
Size:
13,866 bases
Orientation:
Plus strand

Previous Assembly
chr11:18,416,110-18,429,972
(GRCh37/hg19 by Entrez Gene)
Size:
13,863 bases
Orientation:
Plus strand

chr11:18,415,935-18,429,972
(GRCh37/hg19 by Ensembl)
Size:
14,038 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for LDHA Gene

Proteins for LDHA Gene

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

    Protein Symbol:
    P00338-LDHA_HUMAN
    Recommended name:
    L-lactate dehydrogenase A chain
    Protein Accession:
    P00338
    Secondary Accessions:
    • B4DKQ2
    • B7Z5E3
    • D3DQY3
    • F8W819
    • Q53G53
    • Q6IBM7
    • Q6ZNV1
    • Q9UDE8
    • Q9UDE9

    Protein attributes for LDHA Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for LDHA Gene

Protein Expression for LDHA Gene

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

Selected DME Specific Peptides for LDHA Gene

P00338:
  • NPVDILT
  • IKLKGYT
  • KSADTLW
  • PNVVKYSP
  • GEHGDSSV
  • DELALVDV
  • DLQHGSLFL
  • VVESAYE
  • MDLQHGS
  • WAIGLSV
  • TAGARQQEGE
  • ARFRYLM
  • NVAGVSLK
  • TYVAWKISGFPK
  • TLWGIQK
  • NLRRVHP
  • LVIITAGARQ
  • LDSARFR
  • GWVLGEHGD
  • ANSKLVI
  • PKNRVIG
  • VKYSPNC
  • QRNVNIFK
  • NLDSARFR
  • NKITVVGVG
  • ACAISIL
  • WKEVHKQVV
  • IGSGCNLD
  • KIVSGKDY
  • EDKLKGE
  • VFLSVPC
  • GFPKNRV

Post-translational modifications for LDHA Gene

  • ISGylated.
  • Ubiquitination at Lys5, Lys14, Lys57, Lys59, Lys76, Lys81, Lys118, Lys126, Lys132, Lys232, Lys243, Lys278, Lys318, and Lys328
  • Modification sites at PhosphoSitePlus

Other Protein References for LDHA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for LDHA Gene

Gene Families for LDHA Gene

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

Protein Domains for LDHA Gene

InterPro:
Blocks:
  • L-lactate dehydrogenase
  • L-lactate dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for LDHA Gene

GenScript: Design optimal peptide antigens:
  • L-lactate dehydrogenase (A8MXQ4_HUMAN)
  • L-lactate dehydrogenase (B4DKQ2_HUMAN)
  • L-lactate dehydrogenase (B7Z5E3_HUMAN)
  • L-lactate dehydrogenase (E9PH51_HUMAN)
  • L-lactate dehydrogenase (F5H308_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00338

UniProtKB/Swiss-Prot:

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

Function for LDHA Gene

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  6. Cell Lines for research

Molecular function for LDHA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-lactate + NAD(+) = H(+) + NADH + pyruvate; Xref=Rhea:RHEA:23444, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16651, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.27;.
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 21988832
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 Models for research

miRNA for LDHA Gene

miRTarBase miRNAs that target LDHA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHA

Clone products for research

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

Cytoplasm.

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 LDHA gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 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 IEA,HDA 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

Pathways by source for LDHA Gene

1 GeneGo (Thomson Reuters) pathway for LDHA Gene
  • Transcription CREB pathway
2 Qiagen pathways for LDHA Gene
  • HIF1Alpha Pathway
  • Metabolic States and Circadian Oscillators
1 Cell Signaling Technology pathway for LDHA Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Nicotinamide Approved, Investigational Pharma Target 466,466
Stiripentol Approved Pharma Target, inhibitor An LDH inhibitor 11
Copper Approved, Investigational Pharma Target 271
L-Lactic acid Approved, Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Hydroxybutyric acid
  • (S)-2-Hydroxybutanoic acid
  • 2-Hydroxybutyrate
  • 2-Hydroxybutyric acid
  • L-2-Hydroxybutanoic acid
  • L-2-Hydroxybutyric acid
 3347-90-8
3-Mercaptolactic acid
  • 3-Mercaptolactate
  • b-Mercaptolactate
  • b-Mercaptolactic acid
  • beta-Mercaptolactate
  • beta-Mercaptolactic acid
 2614-83-7
3-Mercaptopyruvic acid
  • 3-Mercapto-2-oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-Mercapto-2-oxopropanoate
  • Mercaptopyruvic acid
 2464-23-5
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton

(4) ApexBio Compounds for LDHA Gene

Compound Action Cas Number
Galloflavin
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 for research

Transcripts for LDHA Gene

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mRNA/cDNA for LDHA Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
25 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDHA

Clone products for research

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: - - -
SP7:

Relevant External Links for LDHA Gene

GeneLoc Exon Structure for
LDHA

Expression for LDHA Gene

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDHA

SOURCE GeneReport for Unigene cluster for LDHA Gene:

Hs.2795

Evidence on tissue expression from TISSUES for LDHA Gene

  • Nervous system(5)
  • Liver(5)
  • Blood(4.9)
  • Intestine(4.9)
  • Muscle(4.9)
  • Heart(4.9)
  • Eye(4.8)
  • Skin(4.8)
  • Kidney(4.8)
  • Lung(4.8)
  • Stomach(4.8)
  • Bone marrow(4.6)
  • Pancreas(4.1)
  • Bone(3.9)
  • Spleen(3.2)
  • Lymph node(3.1)
  • Adrenal gland(2.9)
  • Thyroid gland(2.8)
  • Gall bladder(2.4)

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

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

Primer products for research

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
Chimpanzee
(Pan troglodytes)
 Mammalia LDHA 30 31
  • 99.5 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia -- 31
  • 94 (a)
 OneToMany
LDHA 30
  • 93.17 (n)
-- 31
  • 87 (a)
 OneToMany
-- 31
  • 87 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia LDHA 30 31
  • 91.97 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia LDHA 31 31
  • 91 (a)
 OneToMany
-- 31
  • 90 (a)
 OneToMany
-- 31
  • 88 (a)
 OneToMany
-- 31
  • 82 (a)
 OneToMany
-- 31
  • 79 (a)
 OneToMany
-- 31
  • 77 (a)
 OneToMany
-- 31
  • 72 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Ldha 30 17 31
  • 84.49 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LDHA 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LDHA 30 31
  • 79.6 (n)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 86 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ldha 30
  • 74.1 (n)
MGC76171 30
African clawed frog
(Xenopus laevis)
 Amphibia ldha-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii ldha 30 31
  • 69.78 (n)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta ImpL3 30 31 32
  • 59.04 (n)
 ManyToMany
CG13334 31 32
  • 37 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004880 30
  • 58.94 (n)
Worm
(Caenorhabditis elegans)
 Secernentea ldh-1 30 31 32
  • 59.23 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G17260 30
  • 54.56 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0105400 30
  • 52.44 (n)
Corn
(Zea mays)
 Liliopsida Zm.10337 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11301 31
  • 56 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3533 30
Species where no ortholog for LDHA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for LDHA (if available)
TreeFam:
Gene Tree for LDHA (if available)
Aminode:
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:

  • LDHA_HUMAN
  • F5GWW2_HUMAN
  • F5GXC7_HUMAN
  • F5GXH2_HUMAN
  • F5GXU1_HUMAN
  • F5GXY2_HUMAN
  • F5GYU2_HUMAN
  • F5GZQ4_HUMAN
  • F5H5J4_HUMAN
  • F5H6W8_HUMAN
  • F5H8H6_HUMAN

Pseudogenes.org Pseudogenes for LDHA Gene

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

Variants for LDHA Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDHA Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
855025 Uncertain Significance: Glycogen storage disease XI 18,403,020(+) A/G
NM_005566.4(LDHA):c.592+7A>G 		INTRON
877891 Uncertain Significance: Glycogen storage disease XI 18,402,959(+) G/T
NM_005566.4(LDHA):c.538G>T (p.Val180Phe) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
877892 Uncertain Significance: Glycogen storage disease XI 18,407,266(+) G/A
NM_005566.4(LDHA):c.984G>A (p.Lys328=) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR
877949 Uncertain Significance: Glycogen storage disease XI 18,408,043(+) T/G
NM_005566.4(LDHA):c.*762T>G 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
877950 Uncertain Significance: Glycogen storage disease XI 18,408,195(+) A/G
NM_005566.4(LDHA):c.*914A>G 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LDHA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for LDHA Gene

MalaCards: The human disease database

(19) MalaCards diseases for LDHA Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

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

UniProtKB/Swiss-Prot

LDHA_HUMAN
  • 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 variants 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LDHA: view

Publications for LDHA Gene

  1. 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 23 74
  2. 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 23 74
  3. 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 23 41
  4. Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency. (PMID: 8327147) Miyajima H … Kaneko E (Neurology 1993) 3 23 74
  5. 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 23

ExternalLinks

View latest publications for LDHA gene in Mastermind

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