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}.

Pfam Domains GO Terms


CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Essentiality in NALM6
  • Essentiality Rank: 5728
  • Expression level (log2 read counts): 4.23

Expression Distribution

  • Last modified: 2026/01/07 22:36
  • by 127.0.0.1