🧬 基因注释：AMPH
📝 官方信息
官方名称：amphiphysin
功能摘要：This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录