🧬 基因注释：PLP1
📝 官方信息
官方名称：proteolipid protein 1
功能摘要：This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 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