BCKDHB : branched chain keto acid dehydrogenase E1 subunit beta
Description
The BCKDHB gene provides instructions for making a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). This complex is essential for breaking down branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine. These amino acids are obtained from the diet and are vital for muscle growth, energy production, and other metabolic processes. The BCKDHB subunit plays a critical role in the enzymatic activity of the BCKDC, ensuring efficient breakdown of BCAAs. Mutations in the BCKDHB gene can disrupt this process, leading to the accumulation of BCAAs in the body, resulting in various health complications.
Associated Diseases
Did you know?
MSUD, caused by mutations in BCKDHB, gets its name from the sweet, maple syrup-like odor of the urine of affected individuals.
