double homeobox, 4
Identifiers
Symbol	DUX4
Entrez	22947
HUGO	3082
OMIM	606009
RefSeq	NM_033178
UniProt	Q9UBX2
Other data
Locus	Chr. 4 q35

Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.^[1]

Contents 1 Gene 2 Function 3 Clinical significance 4 See also 5 References

[edit] 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 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]

[edit] Function

The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1).^[2]

[edit] Clinical significance

DUX4 is a facioscapulohumeral muscular dystrophy candidate gene.^[3][4]

[edit] See also

• homeobox
• PITX1

[edit] References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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