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BCAT1 / ECA39 is 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.
Gene Name: | branched chain amino-acid transaminase 1, cytosolic |
Synonyms: | BCAT1, BCAT(c), BCATC, ECA39, MECA39, BCT1, Placental protein 18, PNAS121, PP18, Protein ECA39 |
Target Sequences: | NM_005504 NP_005495.2 P54687 |
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