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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BCAT(c); Branched-chain-amino-acid aminotransferase, cytosolic
Gene Aliases: Bcat1; BCATc; Eca39
UniProt ID: (Mouse) P24288
Entrez Gene ID: (Mouse) 12035
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