MDH2 malate dehydrogenase 2
Gene ID: 4191, updated on 19-Sep-2024Gene type: protein coding
Also known as: MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559
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- Go to complete Gene record for MDH2
- Go to Variation Viewer for MDH2 variants
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 | See labs |
Genomic context
- Location:
- 7q11.23
- Sequence:
- Chromosome: 7; NC_000007.14 (76048106..76067508)
- Total number of exons:
- 10
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 |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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