D2HGDH
Gene Information
- Official Symbol: D2HGDH
- Official Name: D-2-hydroxyglutarate dehydrogenase
- Aliases and Previous Symbols: N/A
- Entrez ID: 728294
- UniProt: Q8N465
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008].
- UniProt Summary: Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. {ECO:0000269|PubMed:15070399}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 5728
- Expression level (log2 read counts): 4.23