菜单 基因医生

该基因编码一种细胞外基质蛋白，似乎在发育过程中调节表皮基底膜粘附和器官形成。该基因突变导致弗雷泽综合征（fraser syndrome），一种多系统畸形，包括颅面、泌尿生殖系统和呼吸系统畸形。选择性剪接导致多个转录变体[由RefSeq提供，2009年10月]
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]