FRG1 抗体 (L-07): sc-101050

FRG1 is a 258 amino acid nuclear protein encoded by the human gene FRG1. The FRG1 protein is thought to be involved in pre-messenger RNA splicing. FRG1 plays a role in processing pre-rRNA, assembling rRNA into ribosomal subunits and may also be involved in pre-mRNA splicing. Facioscapulohu-meral muscular dystrophy (FSHD) is a disease state associated with internal deletions among the tandem array of D4Z4 repeats on chromosome 4q35, a subtelomere region of chromosome 4 that contains the FRG1 gene. The muscle degeneration that is common in patients with FSHD results from increased expression of genes proximal to the deletion, including FRG1. In addition to muscle degeneration, most FSHD patients also develop abnormalities of the retinal vasculature. FRG1 is expressed in adult and fetal muscle, lymphocytes and placenta. It can be localized to nuclear Cajal bodies or speckles.