D2HGDH
D2HGDH (D-2-hydroxyglutarate dehydrogenase, also known as D2HGD) is a mitochondrial FAD-binding enzyme that oxidises D-2-hydroxyglutarate to alpha-ketoglutarate. Mutations in the D2HGDH gene are associated with D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder. Browse Assay Genie's current range of D2HGDH research reagents below, or read on for the biology behind the target.
D2HGDH catalyses the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate, also called 2-ketoglutarate. It also oxidises other D-2-hydroxyacids, including D-malate and D-lactate. Activity is high towards D-2-HG and D-malate, but very weak towards D-lactate. The enzyme is classed as an oxidoreductase and a flavoprotein, and it belongs to the FAD-binding oxidoreductase/transferase type 4 family.
The D2HGDH gene encodes a protein that localises to the mitochondrion. According to the NCBI Gene summary, the enzyme is most active in liver and kidney, and is also active in heart and brain. Orthologues of the gene are named D2hgdh in both mouse and rat, which allows the enzyme to be studied in rodent models.
Mutations in D2HGDH are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder. Its features include developmental delay, epilepsy, hypotonia and dysmorphic features. This link makes the D2HGDH protein a useful focus for work on how D-2-HG is cleared and how its handling in mitochondria relates to disease. The gene is also listed under the aliases MGC25181 and FLJ42195, which may help when searching older literature and databases.
Mutations in D2HGDH are present in D-2-hydroxyglutaric aciduria, a rare recessive disorder with developmental delay, epilepsy, hypotonia and dysmorphic features.
D2HGDH converts D-2-hydroxyglutarate to alpha-ketoglutarate, placing it at the centre of how this metabolite is oxidised.
As an FAD-binding mitochondrial oxidoreductase, D2HGDH is a model for studying flavoprotein activity towards D-2-hydroxyacids such as D-malate and D-lactate.
D2HGDH is most active in liver and kidney, and also active in heart and brain, making it relevant to tissue-specific metabolism.
D2HGDH catalyses the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate in mitochondria. It also oxidises other D-2-hydroxyacids, with high activity towards D-2-HG and D-malate and very weak activity towards D-lactate. It is most active in liver and kidney, and also active in heart and brain.
The official name is D-2-hydroxyglutarate dehydrogenase, and UniProt lists the protein as D-2-hydroxyglutarate dehydrogenase, mitochondrial. Aliases and previous symbols include D2HGD, MGC25181 and FLJ42195. The enzyme carries the EC number 1.1.99.39 and is grouped with flavoproteins and oxidoreductases.
Yes. Mutations in D2HGDH are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder. Mouse and rat both have an orthologous D2hgdh gene. Check the datasheet of any product for its validated reactivity.
Other metabolic enzymes involved in 2-hydroxyglutarate and alpha-ketoglutarate metabolism with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q8N465; product specifications from Assay Genie datasheets.