DUX4
Chr 4double homeobox 4
Also known as: DUX4L
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]
Primary Disease Associations & Inheritance
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DUX4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of SFL-0821 in Adults With FSHD
NOT YET RECRUITINGAn 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression
RECRUITINGADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study
ACTIVE NOT RECRUITINGStudy to Evaluate the Efficacy and Safety of Satralizumab in FSHD1
ACTIVE NOT RECRUITINGClenbuterol to Target DUX4 in FSHD
RECRUITINGClinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
ACTIVE NOT RECRUITINGMotor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
RECRUITINGExternal Resources
Links to major genomics databases and tools