🧬 基因注释：P2RY12
📝 官方信息
官方名称：purinergic receptor P2Y12
功能摘要：The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].
🎯 作为靶基因的剪接因子
- ELAVL3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录