Aliases for BCKDHB Gene
External Ids for BCKDHB Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for BCKDHB Gene
BCKDHB (Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide) is a Protein Coding gene. Diseases associated with BCKDHB include maple syrup urine disease, type ii and intermediate maple syrup urine disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein complex binding and alpha-ketoacid dehydrogenase activity. An important paralog of this gene is PDHB.
UniProtKB/Swiss-Prot for BCKDHB Gene
The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)