菜单 基因医生

该基因编码丝氨酸/苏氨酸蛋白激酶WNK亚家族的一个成员编码的蛋白质可能是通过控制钠和氯离子的转运来调节血压的关键。该基因突变与假性低醛固酮血症II型和遗传性感觉神经病变II型有关。另外，已经描述了编码不同亚型的剪接转录变体，但所有这些变体的全长性质尚未确定。[由RefSeq提供，2010年5月]
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]