This entry represents Frg1 (FSHD region gene 1), a protein that is considered to be a candidate for facioscapulohumeral muscular dystrophy (FSHD). FSHD is a dominant neuromuscular disorder caused by deletions in a number of tandem repeat units (called D4Z4) located on chromosome 4q35. D4Z4 contains a transcriptional silencer whose deletion causes the over-expression in skeletal muscle of 4q35 genes, including Frg1 [, ]. Frg1 is localised to nucleoli and appears to be a component of the human spliceosome []. When overexpressed, it binds and interferes with the activity of the histone methyltransferase Suv4-20h1 both in mammals and Drosophila, inhibiting myogenesis as a result [].
