Abbreviation: BCKDHA
Target Synonym: BCKDHA; BCKDE1A; MSU; MSUD1; OVD1A; 2-oxoisovalerate dehydrogenase subunit alpha; mitochondrial
Conjugation: Unconjugated
UNIProt ID: P12694
Background: The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.
Concentration: 1mg/mL
Immunogen: Recombinant fusion protein of human BCKDHA
Dilution: WB 1:500-1:2000,IF 1:50-1:200
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