🧬 基因注释：AGXT2
📝 官方信息
官方名称：alanine--glyoxylate aminotransferase 2
功能摘要：The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
🎯 作为靶基因的剪接因子
- Srsf7 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录