该基因定位于4q35号染色体上重复单位的100kb着丝粒,在面肩肱型肌营养不良(fshd)中被删除。它在进化上是保守的,在多条人类染色体上有相关的序列,但是DNA序列分析没有显示出与已知基因的任何同源性体内研究表明,编码的蛋白质定位在核仁上。[由RefSeq提供,2008年7月]
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
基因名: | FRG1 |
别名: | FSG1,FRG1A |
基因ID: | 2483 |
Chromosome: (GRCh37) | 4 Start: 190861974 End: 190884360 Strand: |
信号通路: |