菜单 基因医生

这个基因编码一个多克隆群蛋白。该蛋白是组蛋白H3-赖氨酸-27(H3K27)特异性甲基转移酶复合物的组成部分,在同源异型基因的转录抑制中发挥作用这种蛋白质也被招募到双链断裂中,蛋白质水平的降低会导致X射线敏感性和同源重组的增加。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供,2009年5月]
This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

基因名:PHF1
别名:PCL1,PHF2,hPHF1,MTF2L2,TDRD19C
基因ID:5252
Chromosome:
(GRCh37)
6 Start: 33378773 End: 33384230 Strand: 
信号通路:  
PHF1 基因突变与药物