菜单 基因医生

这个基因编码一种属于粘蛋白家族的蛋白质粘蛋白是一种高分子量的o-糖基化蛋白，在形成保护性粘液屏障方面起着重要作用，存在于上皮的顶端表面。编码蛋白是一种膜系粘蛋白，在其氨基末端包含一个胞外结构域、一个大的串联重复结构域和一个具有短胞质结构域的跨膜结构域。氨基末端高度糖基化，而重复区包含156个富含丝氨酸、苏氨酸和脯氨酸的氨基酸重复单元。重复序列中穿插有海胆精子蛋白肠激酶和Agrin（Sea）模块、富含亮氨酸重复序列和ankyrin（ANK）重复序列这些区域一起形成了外区，在靠近跨膜区的海模附近发现了一个潜在的裂解位点这种蛋白质被认为在形成屏障、保护上皮细胞免受病原体侵害方面发挥作用。这种基因的产物被用作不同癌症的标志物，高表达水平与较差的预后相关[由RefSeq提供，2017年5月]
This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]