BCKDK
Description
The BCKDK gene (Branched-Chain Ketoacid Dehydrogenase Kinase) encodes an enzyme that plays a crucial role in regulating the breakdown of branched-chain amino acids (BCAAs), namely leucine, isoleucine, and valine. BCKDK acts as a "brake" on the BCKDH complex, a multi-enzyme complex responsible for the initial step in BCAA catabolism. By phosphorylating the BCKDH complex, BCKDK inhibits its activity, leading to the accumulation of BCAAs in the body. This regulation is essential for maintaining metabolic balance and preventing toxic buildup of BCAAs. Dysregulation of BCKDK activity can lead to various metabolic disorders.
Associated Diseases
Did you know?
Mutations in the BCKDK gene are associated with Maple Syrup Urine Disease (MSUD), a rare metabolic disorder characterized by a sweet, maple syrup-like odor in the urine.
