PRRT2基因突变因子与药物介绍
该基因编码一种跨膜蛋白，其N端含有富含脯氨酸的结构域对小鼠的研究表明，它主要在胚胎期和出生后的大脑和脊髓中表达。该基因突变与幕式运动诱发性运动障碍-1相关。另外，已经发现该基因编码不同亚型的剪接转录变体[由RefSeq提供，2012年1月]
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]
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