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Literature summary for 2.6.1.42 extracted from

  • Wang, X.L.; Li, C.J.; Xing, Y.; Yang, Y.H.; Jia, J.P.
    Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene (2015), J. Inherit. Metab. Dis., 38, 855-861.
    View publication on PubMed

Application

Application Comment Organism
medicine heterogeneous BCAT2 gene mutations R170Q and E264K, found in a 25-year-old patient presenting with headache complaints and mild memory impairment for about six years. The two BCAT2 gene mutations result in decreased BCAT2 enzyme activity. After treatment with vitamin B6, the levels of branched chain amino acids, especially valine are remarkably decreased and brain symmetric white matter abnormal signals are improved Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
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Homo sapiens

Protein Variants

Protein Variants Comment Organism
E264K heterogeneous BCAT2 gene mutation, in combination heterogeneous BCAT2 gene mutation R170Q, found in a 25-year-old patient presenting with headache complaints and mild memory impairment for about six years Homo sapiens
R170Q heterogeneous BCAT2 gene mutation, in combination heterogeneous BCAT2 gene mutation E264K, found in a 25-year-old patient presenting with headache complaints and mild memory impairment for about six years Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
-

Source Tissue

Source Tissue Comment Organism Textmining
HeLa cell
-
Homo sapiens
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Synonyms

Synonyms Comment Organism
Bcat2
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Homo sapiens