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. Is expressed in alar plate midbrain region; brain; eye; immature eye; and musculature system. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 51. 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