产品名称
DU4L7 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Swissprot No.
P0CJ90
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P0CJ90/entry
免疫原
Synthesized peptide derived from human DU4L7 AA range: 314-364
特异性
This antibody detects endogenous levels of DU4L7 at Human
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
