菜单 基因医生

该基因编码的细胞质外周膜蛋白在微绒毛中起蛋白酪氨酸激酶底物的作用。作为erm蛋白家族的一员,该蛋白作为质膜和肌动蛋白细胞骨架之间的中间产物。这种蛋白在细胞表面结构的粘附、迁移和组织中起着关键作用,并与多种人类癌症有关。一个位于3号染色体上的假基因已经被鉴定为该基因。另外,这个基因的剪接变体也被描述过。[由RefSeq提供,2008年7月]
The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]

基因名:EZR
别名:CVL,CVIL,VIL2,HEL-S-105
基因ID:7430
Chromosome:
(GRCh37)
6 Start: 159186773 End: 159240456 Strand: 
信号通路:  
EZR 基因突变与药物