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]

基因名:FRAS1
别名:FRASRS1
基因ID:80144
Chromosome:
(GRCh37)
4 Start: 78978724 End: 79465423 Strand: 
信号通路:  
FRAS1 基因突变与药物

相关基因检测