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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

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]

Function

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

Clinical significance

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

See also

References

  1. ^ Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A (August 1999). "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element". Gene 236 (1): 25–32. doi:10.1016/S0378-1119(99)00267-X. PMID 10433963.  
  2. ^ a b "Entrez Gene: DUX4 Double homeobox, 4". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22947.  
  3. ^ Dixit M, Ansseau E, Tassin A, et al. (November 2007). "DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1". Proc. Natl. Acad. Sci. U.S.A. 104 (46): 18157–62. doi:10.1073/pnas.0708659104. PMID 17984056. PMC 2084313. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17984056.  
  4. ^ Kowaljow V, Marcowycz A, Ansseau E, et al. (August 2007). "The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein". Neuromuscul. Disord. 17 (8): 611–23. doi:10.1016/j.nmd.2007.04.002. PMID 17588759. http://linkinghub.elsevier.com/retrieve/pii/S0960-8966(07)00121-6.  

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

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