Aliases for BCKDK Gene
External Ids for BCKDK Gene
Previous GeneCards Identifiers for BCKDK Gene
The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
GeneCards Summary for BCKDK Gene
BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) is a Protein Coding gene. Diseases associated with BCKDK include branched-chain ketoacid dehydrogenase kinase deficiency and autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Metabolism. GO annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PDK2.
UniProtKB/Swiss-Prot for BCKDK Gene
Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.