DUX4

DUX4
Identifiers
Aliases	DUX4, DUX4L, double homeobox 4
External IDs	GeneCards: DUX4
Gene ontology Molecular function • DNA binding • transcription regulatory region sequence-specific DNA binding • protein binding Cellular component • nuclear membrane • nucleus • nucleoplasm • nucleolus • cytosol Biological process • negative regulation of G0 to G1 transition • regulation of transcription, DNA-templated • transcription, DNA-templated • negative regulation of cell proliferation • positive regulation of transcription from RNA polymerase II promoter • apoptotic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	100288687	n/a
Ensembl	ENSG00000260596	n/a
UniProt	Q9UBX2	n/a
RefSeq (mRNA)	NM_001205218 NM_001278056 NM_001293798 NM_001306068	n/a
RefSeq (protein)	NP_001280727 NP_001292997	n/a
Location (UCSC)	Chr 4: 190.17 – 190.19 Mb	n/a
PubMed search		n/a

100288687

n/a

ENSG00000260596

n/a

Q9UBX2

n/a

NM_001205218
NM_001278056
NM_001293798
NM_001306068

n/a

NP_001280727
NP_001292997

n/a

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.

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