DUX4 Polyclonal

DUX4 protein encoded by the gene located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. DUX4 may be involved in transcriptional regulation. Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD). FSHD is characterized by weakness of the muscles of the face, upper-arm and shoulder girdle. Severity is highly variable. Weakness is slowly progressive and about 20% of affected individuals eventually require a wheelchair. Approximately 70-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10-30% of affected individuals have FSHD as the result of a de novo deletion. Offsprings of an affected individual have a 50% chance of inheriting the deletion.