SpliceAtlasDB
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🧬 基因注释:EDARADD

📝 官方信息

官方名称:EDAR associated via death domain

功能摘要:This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008].

🎯 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