External IDs GeneCards: DUX4 Human Mouse Ensembl ENSG00000260596 | Species Human Entrez 100288687 | |
Aliases DUX4, DUX4L, double homeobox 4 | ||
Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.
Contents
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.
Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).
Clinical significance
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy.