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FLASH GENE

Symbol

DUX4

contributors: mct/npt - updated : 22-09-2016

HGNC name	double homeobox, 4
HGNC id	3082

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function in patient myoblasts at both mRNA and protein level in FSHMD1A, attributable to the stabilized distal DUX4 transcript ( constitutional     --over   induces cell death, induces caspase 3/7 activity and alters emerin distribution at the nuclear envelope (Kowaljow 2007) constitutional     --other   in FSHMD1A, the combination of inefficient chromatin silencing of the D4Z4 repeat and inappropriate DUX4 protein expression in muscle cells tumoral fusion       to CIC as a result of a recurrent chromosomal translocation t(4;19)(q35;q13) in Ewing-like sarcomas constitutional     --other   expressed in FSHMD1A myotubes constitutional     --over   over ten-fold in FSHMD1A myoblasts and myotubes with short telomeres, and its expression is inversely proportional to telomere length

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS