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🧬 基因注释:IFT43

📝 官方信息

官方名称:intraflagellar transport 43

功能摘要:This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].

🎯 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

🔗 外部数据库链接