L2hgdh Gene Summary [Mouse]
Predicted to enable 2-hydroxyglutarate dehydrogenase activity. Predicted to be involved in small molecule metabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; liver; telencephalon; and urinary system. Used to study L-2-hydroxyglutaric aciduria. Human ortholog(s) of this gene implicated in 2-hydroxyglutaric aciduria; L-2-hydroxyglutaric aciduria; cerebellar ataxia; and hereditary spastic paraplegia. Orthologous to human L2HGDH (L-2-hydroxyglutarate dehydrogenase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | L2hgdh |
| Official Name | L-2-hydroxyglutarate dehydrogenase [Source:MGI Symbol;Acc:MGI:2384968] |
| Ensembl ID | ENSMUSG00000020988 |
| Bio databases IDs | |
| Aliases | L-2-hydroxyglutarate dehydrogenase |
| Synonyms | AL525401, C14orf160, L2HGA, L-2-hydroxyglutarate dehydrogenase, RGD1306250 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse L2hgdh often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- 2-hydroxyglutarate dehydrogenase
- FAD dependent oxidoreductase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- L-2 hydroxyglutaric aciduria
- hereditary disorder
- hypertension
- gout
- autosomal recessive nonsyndromic mental retardation
- mitochondrial disorder
- gliosis
regulated by
- lipopolysaccharide
role in cell
- expression in
- phosphorylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse L2hgdh gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- small molecule metabolic process
- 2-oxoglutarate metabolic process
Cellular Component
Where in the cell the gene product is active
- membrane
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- 2-hydroxyglutarate dehydrogenase activity