Anti-D2HGDH (aa 69-118) polyclonal antibody

Antibody Isotype

IgG

Species Reactivity

Human

Immunogen

Synthetic peptide within Human D2HGDH aa 69-118 (N terminal). The exact sequence is proprietary.Sequence: AFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRH Database link: Q8N465

Conjugate

Application Notes

WB: 1 μg/ml;

Alternative Names

D2HGDH; D-2-hydroxyglutarate dehydrogenase; D2HGD; D-2-hydroxyglutarate dehydrogenase, mitochondrial;

Entrez Gene ID

UniProt ID

Antigen Description

Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. Disease: Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]. D2HGA1 is a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. Similarity: Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Contains 1 FAD-binding PCMH-type domain.

Pathway

Interconversion of 2-oxoglutarate and 2-hydroxyglutarate; Pyruvate metabolism and Citric Acid (TCA) cycle;