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This target displays homology in the following species: Cow: 93%; Dog: 93%; Guinea Pig: 79%; Horse: 93%; Human: 100%; Mouse: 86%; Pig: 93%; Rabbit: 93%; Rat: 82%; Sheep: 93%
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 aminotransferase, cytosolic; Protein ECA39
Gene Aliases: Bcat1; BCATc; Eca39
UniProt ID: (Mouse) P24288
Entrez Gene ID: (Mouse) 12035