🧬 基因注释:TDRD6
📝 官方信息
官方名称:tudor domain containing 6
功能摘要:This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016].
🎯 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