Gene Symbol | BCKDK |
Entrez Gene ID | 10295 |
Full Name | branched chain ketoacid dehydrogenase kinase |
Synonyms | BCKDKD,BDK |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) |