🧬 基因注释:GLRA1
📝 官方信息
官方名称:glycine receptor alpha 1
功能摘要:The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015].
🎯 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