MDH1
malate dehydrogenase 1
Summary
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]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201441090 | 2:63,816,175 | A/G | — | likely benign |
| rs2468577100 | 2:63,816,475 | G/C | — | uncertain significance |
| rs201758772 | 2:63,816,526 | A/G | — | likely benign |
| rs199668515 | 2:63,821,685 | A/G | — | uncertain significance |
| rs2468606865 | 2:63,822,568 | T/C | — | likely benign |
| rs78810459 | 2:63,824,528 | C/A | — | likely benign |
| rs533261577 | 2:63,824,541 | G/A | — | uncertain significance |
| rs748664587 | 2:63,824,558 | C/T | — | likely benign |
| rs2468615890 | 2:63,824,673 | G/A | — | uncertain significance |
| rs200076644 | 2:63,824,690 | C/T | — | likely benign |
| rs1709340590 | 2:63,824,692 | C/T | — | pathogenic |
| rs948462796 | 2:63,825,762 | T/G | — | — |
| rs2468650647 | 2:63,832,435 | G/A | — | uncertain significance |
| rs116232314 | 2:63,832,504 | G/A | — | uncertain significance |
| rs777273416 | 2:63,832,525 | G/C | — | uncertain significance |
| rs892406351 | 2:63,833,088 | A/G | — | uncertain significance |
| rs746951614 | 2:63,833,098 | T/C | — | uncertain significance |
| rs201106688 | 2:63,833,130 | G/C | — | uncertain significance |
| rs774885809 | 2:63,833,141 | C/T | — | likely benign |
| rs777304823 | 2:63,834,033 | A/C | — | uncertain significance |
| rs1709543656 | 2:63,834,047 | G/A | — | uncertain significance |
| rs201860319 | 2:63,834,078 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.