MDH2 Gene (Protein Coding)

Malate Dehydrogenase 2

GC07P076048
GIFtS:
48
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants e... See more...

Aliases for MDH2 Gene

Aliases for MDH2 Gene

  • Malate Dehydrogenase 2 2 3 5
  • Malate Dehydrogenase 2, NAD (Mitochondrial) 2 3
  • Malate Dehydrogenase, Mitochondrial 3 4
  • EC 1.1.1.37 4 51
  • Testicular Tissue Protein Li 120 3
  • MGC:3559 3
  • EC 1.1.1 51
  • EIEE51 3
  • M-MDH 3
  • MOR1 3
  • MDH2 5
  • MDH 3

External Ids for MDH2 Gene

Previous GeneCards Identifiers for MDH2 Gene

  • GC07P074212
  • GC07P075275
  • GC07P075289
  • GC07P075322
  • GC07P075515
  • GC07P075677
  • GC07P070763

Summaries for MDH2 Gene

Entrez Gene Summary for MDH2 Gene

  • Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GeneCards Summary for MDH2 Gene

MDH2 (Malate Dehydrogenase 2) is a Protein Coding gene. Diseases associated with MDH2 include Epileptic Encephalopathy, Early Infantile, 51 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Glucose metabolism and Glyoxylate and dicarboxylate metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is LDHA.

Gene Wiki entry for MDH2 Gene

Additional gene information for MDH2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MDH2 Gene

Genomics for MDH2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MDH2 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 MDH2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MDH2

Top Transcription factor binding sites by QIAGEN in the MDH2 gene promoter:
  • Pax-2
  • Pax-2a
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MDH2 Gene

Genomic Locations for MDH2 Gene
chr7:76,048,051-76,067,508
(GRCh38/hg38)
Size:
19,458 bases
Orientation:
Plus strand
chr7:75,677,369-75,696,826
(GRCh37/hg19)
Size:
19,458 bases
Orientation:
Plus strand

Genomic View for MDH2 Gene

Genes around MDH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDH2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MDH2 Gene

Proteins for MDH2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MDH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40926-MDHM_HUMAN
    Recommended name:
    Malate dehydrogenase, mitochondrial
    Protein Accession:
    P40926
    Secondary Accessions:
    • A8K414
    • B2RE78
    • B4DE44
    • E9PDB2
    • O43682

    Protein attributes for MDH2 Gene

    Size:
    338 amino acids
    Molecular mass:
    35503 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MDH2 Gene

    Alternative splice isoforms for MDH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MDH2 Gene

Protein Expression for MDH2 Gene

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

Selected DME Specific Peptides for MDH2 Gene

P40926:
  • PRKPGMTR
  • GGIGQPL
  • SALARPA
  • RANTFVAE
  • FGVTTLD
  • RKPGMTR
  • IPAGVPRKPG
  • VPVIGGH
  • GSATLSMA
  • FVAELKG
  • AIPELKASIKKGEDFVK
  • ETECTYFSTPLLLGKKG

Post-translational modifications for MDH2 Gene

  • Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with the appearance of tri- and tetraacetylations. Glucose also increases acetylation by about 60%.
  • Glycosylation at Ser33
  • Ubiquitination at Lys78 and Lys301
  • Modification sites at PhosphoSitePlus

Other Protein References for MDH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MDH2 Gene

Gene Families for MDH2 Gene

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

Protein Domains for MDH2 Gene

InterPro:
Blocks:
  • L-lactate dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for MDH2 Gene

GenScript: Design optimal peptide antigens:
  • Malate dehydrogenase, mitochondrial (MDHM_HUMAN)
  • Malate dehydrogenase (Q0QF37_HUMAN)
  • Malate dehydrogenase (Q6FHZ0_HUMAN)
  • Malate dehydrogenase (Q75MT9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P40926

UniProtKB/Swiss-Prot:

MDHM_HUMAN :
  • Belongs to the LDH/MDH superfamily. MDH type 1 family.
Family:
  • Belongs to the LDH/MDH superfamily. MDH type 1 family.
genes like me logo Genes that share domains with MDH2: view

Function for MDH2 Gene

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

Molecular function for MDH2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate; Xref=Rhea:RHEA:21432, ChEBI:CHEBI:15378, ChEBI:CHEBI:15589, ChEBI:CHEBI:16452, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.37; Evidence={ECO:0000269|PubMed:27989324};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is enhanced by acetylation.
GENATLAS Biochemistry:
malate dehydrogenase,NAD,mitochondrial,catalyzing the eight step of citric acid cycle

Enzyme Numbers (IUBMB) for MDH2 Gene

Phenotypes From GWAS Catalog for MDH2 Gene

Gene Ontology (GO) - Molecular Function for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003824 catalytic activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016615 malate dehydrogenase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA --
genes like me logo Genes that share ontologies with MDH2: view
genes like me logo Genes that share phenotypes with MDH2: view

Human Phenotype Ontology for MDH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MDH2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MDH2 Gene

Localization for MDH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDH2 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 MDH2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 4
plasma membrane 3
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IBA,IDA 16740313
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MDH2: view

Pathways & Interactions for MDH2 Gene

genes like me logo Genes that share pathways with MDH2: view

Pathways by source for MDH2 Gene

1 GeneGo (Thomson Reuters) pathway for MDH2 Gene
  • Glycolysis and gluconeogenesis (short map)
1 Cell Signaling Technology pathway for MDH2 Gene

Gene Ontology (GO) - Biological Process for MDH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006094 gluconeogenesis TAS --
GO:0006099 tricarboxylic acid cycle TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006108 malate metabolic process IMP 6576816
genes like me logo Genes that share ontologies with MDH2: view

No data available for SIGNOR curated interactions for MDH2 Gene

Drugs & Compounds for MDH2 Gene

Products:

  1. Drug

(29) Drugs for MDH2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric acid Approved, Vet_approved Nutra Activator, Agonist, Target 1509
NADH Approved Nutra Target 0
Xanthinol Approved, Withdrawn Pharma Target, cofactor 0
Maleic acid Experimental, Investigational Pharma Target 336
Oxaloacetate Ion Experimental Pharma Target 0

(34) Additional Compounds for MDH2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
L-Malic acid
  • (-)-L-Malic acid
  • (S)-(-)-Hydroxysuccinic acid
  • L-2-Hydroxybutanedioic acid
  • L-Apple acid
  • Malate
 97-67-6
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • keto-Succinic acid
  • Ketosuccinic acid
 328-42-7
genes like me logo Genes that share compounds with MDH2: view

Transcripts for MDH2 Gene

Products:

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

mRNA/cDNA for MDH2 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDH2

Alternative Splicing Database (ASD) splice patterns (SP) for MDH2 Gene

No ASD Table

Relevant External Links for MDH2 Gene

GeneLoc Exon Structure for
MDH2

Expression for MDH2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MDH2 Gene

mRNA expression in normal human tissues for MDH2 Gene
mRNA expression by GTEx for MDH2 GenemRNA expression by BioGPS for MDH2 Gene

mRNA differential expression in normal tissues according to GTEx for MDH2 Gene

This gene is overexpressed in Muscle - Skeletal (x5.5).

Protein differential expression in normal tissues from HIPED for MDH2 Gene

This gene is overexpressed in Liver, secretome (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MDH2 Gene



Protein tissue co-expression partners for MDH2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MDH2

SOURCE GeneReport for Unigene cluster for MDH2 Gene:

Hs.520967

Evidence on tissue expression from TISSUES for MDH2 Gene

  • Heart(5)
  • Lung(4.9)
  • Nervous system(4.9)
  • Liver(4.8)
  • Kidney(4.8)
  • Skin(4.4)
  • Intestine(4.3)
  • Muscle(4.1)
  • Pancreas(3.6)
  • Blood(3.3)
  • Stomach(3.2)
  • Eye(3)
  • Adrenal gland(2.7)
  • Thyroid gland(2.5)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with MDH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MDH2 Gene

Orthologs for MDH2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MDH2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MDH2 30 31
  • 99.51 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MDH2 31
  • 92 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MDH2 30 31
  • 87.87 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mdh2 30
  • 85.4 (n)
Mouse
(Mus musculus)
 Mammalia Mdh2 30 17 31
  • 85.21 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MDH2 31
  • 79 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MDH2 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MDH2 30 31
  • 78.93 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MDH2 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mdh2 30
  • 74.46 (n)
Str.1699 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.26083 30
Zebrafish
(Danio rerio)
 Actinopterygii mdh2 30 31
  • 76.46 (n)
 OneToOne
Dr.25868 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5113 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001903 30
  • 65.57 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Mdh2 30 31
  • 62.76 (n)
 OneToMany
CG7998 32
  • 59 (a)
CG10749 31 32
  • 46 (a)
 OneToMany
CG10748 31 32
  • 43 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea mdh-1 32
  • 59 (a)
mdh-2 30 31
  • 58.59 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR152C 30
  • 57.22 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F25960g 30
  • 54.37 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MDH1 30 31 33
  • 53.5 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons mMDH1 30
  • 58.76 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.82 30
Rice
(Oryza sativa)
 Liliopsida Os01g0649100 30
  • 58.86 (n)
Os.26206 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.702 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.1039 30
Corn
(Zea mays)
 Liliopsida Zm.2061 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04899 30
  • 60.47 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC306.08c 30
  • 54.61 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4030 31
  • 54 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4779 30
Species where no ortholog for MDH2 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 MDH2 Gene

ENSEMBL:
Gene Tree for MDH2 (if available)
TreeFam:
Gene Tree for MDH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MDH2: view image

Paralogs for MDH2 Gene

Paralogs for MDH2 Gene

genes like me logo Genes that share paralogs with MDH2: view

Variants for MDH2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MDH2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
667830 Benign: not provided 76,048,186(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
711986 Benign: not provided 76,060,498(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
713898 Benign: not provided 76,058,064(+) G/A MISSENSE_VARIANT
714349 Benign: not provided 76,054,955(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
721537 Likely Benign: not provided 76,064,824(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MDH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MDH2 Gene

Variant ID Type Subtype PubMed ID
dgv11459n54 CNV loss 21841781
dgv120n16 CNV deletion 17901297
esv3613754 CNV gain 21293372
nsv1033450 CNV loss 25217958
nsv428173 CNV gain 18775914
nsv528969 CNV gain 19592680

Variation tolerance for MDH2 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MDH2 Gene

Human Gene Mutation Database (HGMD)
MDH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MDH2 Gene

Disorders for MDH2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MDH2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 51
  • eiee51
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
l-2-hydroxyglutaric aciduria
  • l2hga
gastroenteritis
  • cholera morbus
2-hydroxyglutaric aciduria
  • combined d-2- and l-2-hydroxyglutaric aciduria
- elite association - COSMIC cancer census association via MalaCards
Search MDH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDHM_HUMAN
  • Epileptic encephalopathy, early infantile, 51 (EIEE51) [MIM:617339]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development. {ECO:0000269 PubMed:27989324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MDH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MDH2: view

No data available for Genatlas for MDH2 Gene

Publications for MDH2 Gene

  1. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. (PMID: 27989324) Ait-El-Mkadem S … Paquis-Flucklinger V (American journal of human genetics 2017) 3 4
  2. Regulation of cellular metabolism by protein lysine acetylation. (PMID: 20167786) Zhao S … Guan KL (Science (New York, N.Y.) 2010) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. L-2-hydroxyglutaric aciduria, a defect of metabolite repair. (PMID: 17603759) Rzem R … Veiga-da-Cunha M (Journal of inherited metabolic disease 2007) 3 23

ExternalLinks

View latest publications for MDH2 gene in Mastermind

Products for MDH2 Gene

  • Addgene plasmids for MDH2

Sources for MDH2 Gene