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 (Comment) | Organism |
---|---|
- |
Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HeLa cell | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
Bcat2 | - |
Homo sapiens |