branched chain keto acid dehydrogenase E1, beta polypeptide
Symbol
Organism
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. [provided by RefSeq, Jul 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| tag-173 | Caenorhabditis elegans | |
| CG17691 | Drosophila melanogaster | |
| bckdhb | Danio rerio | |
| Bckdhb | Mus musculus | |
| Bckdhb | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0007584 | response to nutrient | biological_process | |
| GO:0009083 | branched chain family amino acid catabolic process | biological_process | |
| GO:0034641 | cellular nitrogen compound metabolic process | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0051384 | response to glucocorticoid stimulus | biological_process | |
| GO:0051591 | response to cAMP | biological_process | |
| GO:0005739 | mitochondrion | cellular_component | |
| GO:0005759 | mitochondrial matrix | cellular_component | |
| GO:0005947 | mitochondrial alpha-ketoglutarate dehydrogenase complex | cellular_component | |
| GO:0003824 | catalytic activity | molecular_function | |
| GO:0003826 | alpha-ketoacid dehydrogenase activity | molecular_function | |
| GO:0003863 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0016831 | carboxy-lyase activity | molecular_function | |
| GO:0032403 | protein complex binding | molecular_function | |