菜单 基因医生

该基因编码肿瘤抑制蛋白Ras结合域家族(RASSF)的一个成员该基因对维持上皮细胞粘附连接功能至关重要,并在上皮细胞迁移中发挥作用它是一个候选的肺肿瘤抑制基因。一个染色体易位t(12;22)(p11.2;q13.3)导致该基因和FBLN1基因融合,发现在一个复杂的多指畸形类型已经发现该基因的多个交替剪接的转录变体编码不同的亚型。[由RefSeq提供,2011年5月]
This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

基因名:RASSF8
别名:HOJ1,C12orf2
基因ID:11228
Chromosome:
(GRCh37)
12 Start: 26111964 End: 26232825 Strand: 
信号通路:  
RASSF8 基因突变与药物