Specifications
Immunogen
A synthetic peptide of human BCKDHB is used for rabbit immunization.
Target
Alternative Names
BCKDHB; branched chain keto acid dehydrogenase E1, beta polypeptide; 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial; maple syrup urine disease; BCKDE1B; BCKDH E1-beta; 2-oxoisovalerate dehydrogenase beta subunit; E1b-beta subunit of the branch
Product Background
Antigen Description
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3 non-coding regions, but encoding the same isoform.
Pathway
2-oxobutanoate degradation I, organism-specific biosystem; 2-oxobutanoate degradation I, conserved biosystem; Branched-chain amino acid catabolism, organism-specific biosystem; Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem; acetoacetate + acetyl-CoA, conserved biosystem.
Citations
Publication ()
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COA
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