Aliases for BCKDHB Gene
- Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta 2 3
- Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide 2 3 5
- Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain 3 4
- 2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial 2 3
- BCKDH E1-Beta 3 4
- EC 126.96.36.199 4 61
- BCKDE1B 3 4
External Ids for BCKDHB Gene
Previous GeneCards Identifiers for BCKDHB Gene
This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene 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 multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for BCKDHB Gene
BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta) 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 Glyoxylate metabolism and glycine degradation and threonine degradation. 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).