🧬 基因注释：GLDN
📝 官方信息
官方名称：gliomedin
功能摘要：This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 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