DUX4

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 encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Description

Double homeobox 4

Tissue specificity

Not detected

Subcell location

Nucleoplasm, Nucleoli, Golgi apparatus, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Transcription factors
Transporters

Chromosome

4 (190173774 - 190185942)

Ensembl ID

ENSG00000260596  (ver. 103.38)

Orthologs

Mouse Duxbl1: ENSMUSG00000048502

UniProt

Q9UBX2

neXtProt

NX_Q9UBX2

Human splice variants
Mouse splice variants

Protein structure