DUX4

100288687n/aENSG00000260596ENSG00000283949n/aQ9UBX2n/aNM_001205218NM_001278056NM_001293798NM_001306068NM_001363820n/aNP_001280727NP_001292997NP_001350749n/aDouble homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene. Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 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 (named DUX4) 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. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1). Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy. This article incorporates text from the United States National Library of Medicine, which is in the public domain.