FIGURE: 1 / 3
Sequence of this protein is as follows: MDCSNGCSAE CTGEGGSKEV VGTFKAKDLI VTPATILKEK PDPNNLVFGT VFTDHMLTVE WSSEFGWEKP HIKPLQNLSL HPGSSALHYA VELFEGLKAF RGVDNKIRLF QPNLNMDRMY RSAVRATLPV FDKEELLECI QQLVKLDQEW VPYSTSASLY IRPTFIGTEP SLGVKKPTKA LLFVLLSPVG PYFSSGTFNP VSLWANPKYV RAWKGGTGDC KMGGNYGSSL FAQCEAVDNG CQQVLWLYGE DHQITEVGTM NLFLYWINED GEEELATPPL DGIILPGVTR RCILDLAHQW DTELSLFSIN LPDFLQFIYF
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.
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Protein Aliases: BCAT(c); branched chain amino-acid transaminase 1, cytosolic; branched chain aminotransferase 1, cytosolic; Branched-chain-amino-acid aminotransferase, cytosolic; placental protein 18; Protein ECA39
Gene Aliases: BCAT1; BCATC; BCT1; ECA39; MECA39; PNAS121; PP18
UniProt ID: (Human) P54687
Entrez Gene ID: (Human) 586