🧬 基因注释：BTK
📝 官方信息
官方名称：Bruton tyrosine kinase
功能摘要：The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].
🎯 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