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基因注释:DNAAF1

官方信息

官方名称:dynein axonemal assembly factor 1

功能摘要:The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].

作为靶基因的剪接因子
  • Ptbp2 综合评分: 0.298 · 证据 1 条
  • Tardbp 综合评分: 0.150 · 证据 1 条
关联疾病

该基因暂无关联疾病记录

外部数据库链接