Branched Chain Amino-Acid Transaminase 1 (BCAT1) is a crucial enzyme in the metabolism of branched-chain amino acids (BCAAs), which include leucine, isoleucine, and valine. These amino acids are essential for various cellular processes, including protein synthesis and energy production. BCAT1 is encoded by the BCAT1 gene in humans and is primarily found in the cytoplasm of cells .
BCAT1 catalyzes the reversible transamination of BCAAs and glutamate, facilitating the first step in the catabolism of these essential amino acids. The enzyme’s activity involves the transfer of an amino group from BCAAs to alpha-ketoglutarate, producing branched-chain alpha-keto acids (BCKAs) and glutamate . This reaction is vital for maintaining the balance of amino acids within the cell and for providing substrates for energy production and biosynthesis.
BCAT1 plays a significant role in various physiological processes, including:
Mutations or dysregulation of the BCAT1 gene can lead to metabolic disorders such as hypervalinemia and hyperleucine-isoleucinemia . Additionally, BCAT1 has been implicated in the progression of certain cancers, including glioblastoma, where it contributes to tumor growth and metabolic reprogramming .