Gene
l2hgdh
- ID
- ZDB-GENE-090319-6
- Name
- L-2-hydroxyglutarate dehydrogenase
- Symbol
- l2hgdh Nomenclature History
- Previous Names
-
- si:ch211-67f24.10
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have (S)-2-hydroxy-acid oxidase activity and 2-hydroxyglutarate dehydrogenase activity. Predicted to be involved in oxidation-reduction process. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; cerebellar ataxia; hereditary spastic paraplegia; and visual epilepsy. Orthologous to human L2HGDH (L-2-hydroxyglutarate dehydrogenase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| L-2-hydroxyglutaric aciduria | Alliance | L-2-hydroxyglutaric aciduria | 236792 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | FAD dependent oxidoreductase | FAD/NAD(P)-binding domain superfamily |
|---|---|---|---|
|
UniProtKB:B8A6D3
|
452 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
l2hgdh-201
(1)
|
Ensembl | 1,809 nt |
Interactions and Pathways
No data available
Plasmids
No data available