Specifications
Immunogen
A synthetic peptide of human L2HGDH is used for rabbit immunization.
Target
Alternative Names
L2HGDH; L-2-hydroxyglutarate dehydrogenase; C14orf160, chromosome 14 open reading frame 160; L-2-hydroxyglutarate dehydrogenase, mitochondrial; 2 hydroxyglutarate dehydrogenase; FLJ12618; duranin; alpha-ketoglutarate reductase; 2-hydroxyglutarate dehydrog
Product Background
Antigen Description
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
Pathway
Butanoate metabolism, organism-specific biosystem; Butanoate metabolism, conserved biosystem; Interconversion of 2-oxoglutarate and 2-hydroxyglutarate, organism-specific biosystem; Metabolism, organism-specific biosystem; Pyruvate metabolism and Citric Acid (TCA) cycle, organism-specific biosystem; The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem.
Citations
Publication ()
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