Gene
mdh2
- ID
- ZDB-GENE-040426-2143
- Name
- malate dehydrogenase 2, NAD (mitochondrial)
- Symbol
- mdh2 Nomenclature History
- Previous Names
-
- wu:fj48c08
- wu:fj55d06
- zgc:64133
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have L-malate dehydrogenase activity. Predicted to be involved in tricarboxylic acid cycle. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 51. Is expressed in alar plate midbrain region; brain; eye; immature eye; and musculature system. Orthologous to human MDH2 (malate dehydrogenase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64133 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 51 | Alliance | Developmental and epileptic encephalopathy 51 | 617339 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR001252 | Malate dehydrogenase, active site |
| Domain | IPR001236 | Lactate/malate dehydrogenase, N-terminal |
| Domain | IPR022383 | Lactate/malate dehydrogenase, C-terminal |
| Family | IPR001557 | L-lactate/malate dehydrogenase |
| Family | IPR010097 | Malate dehydrogenase, type 1 |
| Homologous_superfamily | IPR015955 | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal | Lactate/malate dehydrogenase, C-terminal | Lactate/malate dehydrogenase, N-terminal | L-lactate/malate dehydrogenase | Malate dehydrogenase, active site | Malate dehydrogenase, type 1 | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7T334
|
337 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available