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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.
Protein class

Disease related genes, Potential drug targets, Transcription factors, Transporters

Predicted location

Intracellular

Single cell type specificity

Group enriched (Late spermatids, Early spermatids)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (A549, U-2 OS, U-266/70, U-266/84, U-698)

Interaction

Binds DNA as a monomer (PubMed:30322619, PubMed:30540931). Interacts (via C-terminus) with EP300 and CREBBP (PubMed:26951377).

Molecular function

Activator, Developmental protein, DNA-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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