🧬 基因注释：SHROOM2
📝 官方信息
官方名称：shroom family member 2
功能摘要：This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016].
🎯 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