MDH2 malate dehydrogenase 2

Gene ID: 4191, updated on 11-Apr-2024
Gene type: protein coding
Also known as: MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Developmental and epileptic encephalopathy, 51 MedGen: C4479208OMIM: 617339GeneReviews: Not available	See labs

Genomic context

Location:: 7q11.23

Sequence:: Chromosome: 7; NC_000007.14 (76048106..76067508)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MDH2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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