基因注释:SCNN1B
官方信息
官方名称:sodium channel epithelial 1 subunit beta
功能摘要:Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009].
关联疾病
该基因暂无关联疾病记录