Description
Product Characteristics: The reagents were evaluated for potency, purity and specificity using most or all of the following techniques: immunoelectrophoresis, cross-immunoelectrophoresis, single radial immunodiffusion (Ouchterlony), block titration, ELISA, immunoblotting and enzyme inhibition.
Target Information: This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq, Jul 2008]