DUX4
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Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.[1]
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.[2]
Function
The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).[2]
Clinical significance
Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy.[3][4]
See also
References
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<references />, or <references group="..." />This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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