BCAT2
Description
BCAT2, also known as branched-chain aminotransferase 2, is an enzyme that plays a crucial role in the metabolism of branched-chain amino acids (BCAAs) – valine, leucine, and isoleucine. These amino acids are essential for muscle protein synthesis, energy production, and other metabolic processes. BCAT2 catalyzes the first step in the catabolism of BCAAs, converting them into α-ketoacids. This enzyme is primarily found in the liver and kidneys, where it contributes to the regulation of BCAA levels in the body. BCAT2 is also expressed in other tissues, including the brain, muscles, and adipose tissue, suggesting its potential involvement in various physiological functions.
Associated Diseases
- Maple Syrup Urine Disease (MSUD): A rare genetic disorder caused by deficiencies in the enzymes involved in BCAA metabolism, including BCAT2. This condition leads to a buildup of BCAAs in the body, causing severe neurological problems.
- Cancer: BCAT2 has been implicated in cancer development and progression, particularly in breast, lung, and colon cancers. Studies have shown that BCAT2 overexpression can contribute to tumor cell growth and survival.
Did you know?
BCAT2 is named after its substrate specificity for branched-chain amino acids, reflecting its role in their catabolism.