Aliases for MDH1 Gene
External Ids for MDH1 Gene
Previous GeneCards Identifiers for MDH1 Gene
This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]
GeneCards Summary for MDH1 Gene
MDH1 (Malate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with MDH1 include tetanus neonatorum and x-linked sideroblastic anemia with ataxia. Among its related pathways are Metabolism and Glycosaminoglycan 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.