基因名：
BCAT1
产品别名：
BCATC； BCT1； ECA39； MECA39； PNAS121； PP18； BCAT1； branched chain amino acid transaminase 1； branched chain amino acid transaminase 1； branched-chain-amino-acid aminotransferase, cytosolic； branched chain amino-acid transaminase 1, cytosolic； branched chain aminotransferase 1, cytosolic； placental protein 18； 支链转氨酶1(BCAT1)； 胞浆支链氨基酸酸转氨酶；
背景信息：
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. [provided by RefSeq, May 2010].
