Aliases for MDH1 Gene
External Ids for MDH1 Gene
Previous GeneCards Identifiers for MDH1 Gene
This gene encodes an enzyme that catalyzes the reversible oxidation of malate to oxaloacetate using the NAD/NADH cofactor system in the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one found in the mitochondrial matrix and the other in the cytoplasm. This protein represents the cytosolic isozyme, which has a pivotal role in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. A recent study showed that two protein isoforms are produced from this mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism, and that these C-terminally distinct isoforms have different subcellular localization. Alternatively spliced transcript variants have also been found for this gene. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Oct 2015]
GeneCards Summary for MDH1 Gene
MDH1 (Malate Dehydrogenase 1, NAD (Soluble)) is a Protein Coding gene. Diseases associated with MDH1 include anemia, sideroblastic, with ataxia and tetanus neonatorum. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is MDH1B.