🧬 基因注释：ACTN3
📝 官方信息
官方名称：actinin alpha 3
功能摘要：This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024].
🎯 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