胞浆支链氨基酸酸转氨酶抗体

胞浆支链氨基酸酸转氨酶抗体 Background: 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]. Also known as: cytosolic; BCAT; BCAT(c); Bcat1; BCAT1_HUMAN; BCT1; Branched chain amino acid aminotransferase, cytosolic; Branched-chain-amino-acid aminotransferase; ECA39; MECA39; PNAS 121; Protein ECA39.胞浆支链氨基酸酸转氨酶抗体