🧬 基因注释:BSND
📝 官方信息
官方名称:barttin CLCNK type accessory subunit beta
功能摘要:This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008].
🏥 关联疾病
该基因暂无关联疾病记录