🧬 基因注释：PRRT2
📝 官方信息
官方名称：proline rich transmembrane protein 2
功能摘要：This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012].
🎯 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