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 enable 2-hydroxyglutarate dehydrogenase activity. 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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | FAD dependent oxidoreductase | FAD/NAD(P)-binding domain superfamily |
|---|---|---|---|---|
| UniProtKB:B8A6D3 | InterPro | 452 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
l2hgdh-201
(1)
|
Ensembl | 1,809 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
- Tokarz, D.A., Heffelfinger, A.K., Jima, D.D., Gerlach, J., Shah, R.N., Rodriguez-Nunez, I., Kortum, A.N., Fletcher, A.A., Nordone, S.K., Law, J.M., Heber, S., Yoder, J.A. (2017) Disruption of Trim9 function abrogates macrophage motility in vivo. Journal of Leukocyte Biology. 102(6):1371-1380
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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