ECA39 Rabbit Polyclonal Antibody

Branched chain amino acid transaminase 1 (BCAT1) Homo sapiens 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], catalytic activity:2-oxoglutaric acid + L-isoleucine = (S) -3-methyl-2-oxopentanoic acid + L-glutamic acid., catalytic activity:2-oxoglutaric acid + L-valine = 3-methyl-2-oxobutanoic acid + L-glutamic acid., catalytic activity:L-leucine + 2-oxoglutarate = 4-methyl-2-oxopentanoate + L-glutamate., cofactor:Pyridoxal phosphate., function:Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine., similarity:Belongs to the class-IV pyridoxal-phosphate-dependent aminotransferase family., subunit:Homodimer., tissue specificity:During embryogenesis, expressed in the brain and kidney. Overexpressed in C-myc induced tumors such as Burkitt's lymphoma.