Anti-BCAT1, ID (BCAT1, BCT1, ECA39, Branched-chain-amino-acid aminotransferase, cytosolic, Protein E

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. Applications: Suitable for use in Western Blot, Immunohistochemistry, ELISA, Recommended Dilution: ELISA: 1:1,000, Western Blot: 1:100-500, Immunohistochemistry: 1:50-100, Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.