这个基因编码一种调节细胞骨架动力学和蛋白质翻译的蛋白质。编码蛋白是促进肌动蛋白聚合的波调节复合物(WRC)的组成部分,它还与脆性X智力低下蛋白(FMRP)和翻译起始因子4E相互作用,抑制蛋白翻译包括该基因在内的大量染色体缺失与人类患者患精神分裂症和癫痫的风险增加有关。该基因在多种人类肿瘤中表达减少,编码的蛋白可能抑制肿瘤的侵袭。[由RefSeq提供,2017年5月]
This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization.This protein also interacts with the Fragile X mental retardation protein (FMRP) and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, May 2017]
基因名: | CYFIP1 |
别名: | SHYC,SRA1,SRA-1,P140SRA-1 |
基因ID: | 23191 |
Chromosome: (GRCh37) | 15 Start: 22892667 End: 23003603 Strand: |
信号通路: |