L2HGDH Gene Summary [Human]
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | L2HGDH |
| Official Name | L-2-hydroxyglutarate dehydrogenase [Source:HGNC Symbol;Acc:HGNC:20499] |
| Ensembl ID | ENSG00000087299 |
| Bio databases IDs | |
| Aliases | L-2-hydroxyglutarate dehydrogenase, 2-hydroxyglutarate dehydrogenase |
| Synonyms | AL525401, C14orf160, L2HGA, L-2-hydroxyglutarate dehydrogenase, RGD1306250 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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