Immunogen sequence: LLDDHKDVVT LLAEGLRESR KHIEDEKLVR YFLDKTLTSR LGIRMLATHH LALHEDKPDF VGIICTRLSP KKIIEKWVDF ARRLCEHKYG NAPRVRINGH VAARFPFIPM PLDY
Highest antigen sequence identity to the following orthologs: Mouse - 99%, Rat - 100%.
The second major step in the catabolism of the branched-chain amino acids, isoleucine, leucine, and valine, is irreversibly catalyzed by the branched-chain alpha-keto acid dehydrogenase complex (BCKD), an inner-mitochondrial enzyme complex composed of 3 catalytic components: a branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). The complex also contains 2 enzymes that regulated the state of activity of the BCKD complex: a kinase (BCKDK), and a phosphorylase. The ubiquitously expressed kinase contains 1 histidine kinase domain. Maple syrup urine disease (MSUD) is a pathology secondary to an enzyme defect in the catabolic pathway of leucine, isoleucine, and valine. Accumulation of these amino acids and their corresponding keto acids results in encephalopathy and progressive neurodegeneration in infants not treated for MSUD.
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Protein Aliases: [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase; [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; BCKD-kinase; BCKDHKIN; branched chain alpha-ketoacid dehydrogenase kinase; Branched-chain alpha-ketoacid dehydrogenase kinase; mitochondrial
Gene Aliases: AI327402; BCKDK; BCKDKD; BDK