功能： disease:Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD) [MIM:158900]. FSHD is characterized by weakness of the muscles of the face, upper-arm and shoulder girdle. Severity is highly variable. Weakness is slowly progressive and about 20% of affected individuals eventually require a wheelchair. Approximately 70-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10-30% of affected individuals have FSHD as the result of a de novo deletion. Offsprings of an affected individual have a 50% chance of inheriting the deletion.,domain:Both homebox domains confer nuclear targeting.,function:May be involved in transcriptional regulation.,miscellaneous:DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes.,similarity:Belongs to the paired homeobox family.,similarity:Contains 2 homeobox DNA-binding domains.,subcellular location:Actively transported through the nuclear pore complex (NPC).,subunit:May exist as a monomer or a dimer.,tissue specificity:Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.,
功能： disease:Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD) [MIM:158900]. FSHD is characterized by weakness of the muscles of the face, upper-arm and shoulder girdle. Severity is highly variable. Weakness is slowly progressive and about 20% of affected individuals eventually require a wheelchair. Approximately 70-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10-30% of affected individuals have FSHD as the result of a de novo deletion. Offsprings of an affected individual have a 50% chance of inheriting the deletion.,domain:Both homebox domains confer nuclear targeting.,function:May be involved in transcriptional regulation.,miscellaneous:DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes.,similarity:Belongs to the paired homeobox family.,similarity:Contains 2 homeobox DNA-binding domains.,subcellular location:Actively transported through the nuclear pore complex (NPC).,subunit:May exist as a monomer or a dimer.,tissue specificity:Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.,
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