Gene table of L2HGDH : L-2-hydroxyglutarate dehydrogenase

Gene-disease associations table

Disease IDDisease nameSource of annotation with L2HGDHOMIM linkNumber of associated genesgenes
236792L-2-HYDROXYGLUTARIC ACIDURIAClinVar, OMIM, HUMSAVAR link to OMIM 1L2HGDH

Download the gene annotation in CSV format

Annotation of the gene L2HGDH

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Butanoate metabolismhsa006507.96
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
MetabolismR-HSA-14307282.34
Pyruvate metabolism and Citric Acid (TCA) cycleR-HSA-714067.56
Interconversion of 2-oxoglutarate and 2-hydroxyglutarateR-HSA-88000911.4
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.71
Associated GO terms for Molecular function
GO termGO IDGO IC
catalytic activityGO:00038241.05
2-hydroxyglutarate dehydrogenase activityGO:00475459.74
oxidoreductase activity, acting on CH-OH group of donorsGO:00166144.83
oxidoreductase activityGO:00164913.12