Description: | DUX4, or double homeobox4, is a human protein that is a transcriptional activator of paired-like homeodomain transcription factor 1 (1). Clinically it is a facioscapulohumeral muscular dystrophy candidate gene that appears to have a toxic gain of function (2-4). In FSHD individuals, the expression of the full-length DUX4 transcript is not completely suppressed in skeletal muscle and possibly other differentiated tissues (5). |