This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the;reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell;growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination:;hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme,;mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been;described.
BCAT1; branched chain amino-acid transaminase 1, cytosolic; BCT1, branched chain aminotransferase 1, cytosolic; branched-chain-amino-acid aminotransferase, cytosolic; cytosolic; BCAT; BCAT(c); BCAT1_HUMAN; BCT1; Branched chain amino acid aminotransferase, cytosolic; Branched-chain-amino-acid aminotransferase; DKFZp686E12175; EC 18.104.22.168; ECA39; MECA39; PNAS 121; Protein ECA39; placental protein 18; branched chain aminotransferase 1, cytosolic; PP18; BCATC; PNAS121; fj66g02; zgc:73157; wu:fj66g02