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基因注释:PMP2

官方信息

官方名称:peripheral myelin protein 2

功能摘要:The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017].

作为靶基因的剪接因子
  • FUS 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • ELAVL3 综合评分: 0.260 · 证据 1 条
  • MBNL2 综合评分: 0.200 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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