🧬 基因注释:KCNK9
📝 官方信息
官方名称:potassium two pore domain channel subfamily K member 9
功能摘要:This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017].
🎯 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