Branched Chain Aminotransferase 1, Cytosolic (BCAT1)

BCAT1 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.Full-length BCAT1 encodes a deduced 393-amino acid precursor protein with a 27-amino acid N-terminal mitochondrial targeting sequence; the mature protein contains 366 amino acids. The P3 splice variant encodes a deduced 381-amino acid precursor that lacks 12 amino acids near the C terminus of full-length BCAT1.