🧬 基因注释：AMPD1
📝 官方信息
官方名称：adenosine monophosphate deaminase 1
功能摘要：Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].
🎯 作为靶基因的剪接因子
- Mbnl2 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录