• DU4L7 rabbit pAb
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Upingbio

YP-Ab-12107-100UL

DU4L7 rabbit pAb

DU4L7 rabbit pAb

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  • Gene Name: DUX4L7
  • Immunogen: Synthesized peptide derived from human DU4L7 AA range: 314-364
  • Specificity: This antibody detects endogenous levels of DU4L7 at Human
  • Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • Source: Polyclonal, Rabbit,IgG
  • Dilution ratio: WB 1：500-2000
  • Purification process: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
  • Concentration: 1 mg/ml
  • Storage: -20°C/1 year
  • Background: This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and 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. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014],
  • Function: 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 ot
  • Species: Human;Rat;Mouse;
  • Range: WB
  • Protein: DU4L7
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