DUX4

Double homeobox, 4 also known as DUX4 is a is_associated_with::protein which in humans is encoded by the DUX4 is_associated_with::gene.

Gene
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that contains two is_associated_with::homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed.

Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (is_associated_with::PITX1).

Clinical significance
Inappropriate expression of DUX4 in muscle cells is the cause of is_associated_with::facioscapulohumeral muscular dystrophy.