BCKDHB: Proteins and Enzymes

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, andfunctions 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 physicalretardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different3' non-coding regions, but encoding the same isoform. (provided by RefSeq)