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基因注释:NDP

官方信息

官方名称:norrin cystine knot growth factor NDP

功能摘要:This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009].

作为靶基因的剪接因子
  • ELAVL3 综合评分: 0.100 · 证据 1 条
  • Rbpms 综合评分: 0.100 · 证据 1 条
  • Srsf7 综合评分: 0.100 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

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