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.
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Protein Aliases: BCAT(c); branched chain amino-acid transaminase 1, cytosolic; branched chain aminotransferase 1, cytosolic; Branched-chain-amino-acid aminotransferase, cytosolic; placental protein 18; Protein ECA39
Gene Aliases: BCAT1; BCATC; BCT1; ECA39; MECA39; PNAS121; PP18