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  • Human BCAT1 wild-type allele is located in the vicinity of 12p12.1 and is approximately 139 kb in length. This allele, which encodes branched-chain-amino-acid aminotransferase, cytosolic protein, plays a role in the catabolism of branched-chain amino acids. Mutation of the gene is associated with hypervalinemia and hyperleucine-isoleucinemia.
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