DUX4


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

Gene

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q35. 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 that contains two 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.

Clinical significance

DUX is normally expressed in the testes and cleavage-stage embryos.
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy.
Overexpression of DUX4 due to translocations can cause B cell leukemia.