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DUX4 Rabbit pAb (bs-12369R)  
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產品編號 bs-12369R
英文名稱 DUX4 Rabbit pAb
中文名稱 雙同源框蛋白4抗體
別    名 Double homeobox protein 10; Double homeobox protein 4; Double homeobox protein 4/10; DUX10; DUX4_HUMAN.  
Specific References  (1)     |     bs-12369R has been referenced in 1 publications.
[IF=10.392] Hao Zhang. et al. DNA crosslinking and recombination-activating genes 1/2 (RAG1/2) are required for oncogenic splicing in acute lymphoblastic leukemia. 2021 Oct 26  other ;  Human.  
研究領域 細胞生物  發育生物學  信號轉導  干細胞  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 45 kDa
檢測分子量
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human DUX4: 53-120/424 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 DUX4 is a homeodomain protein with a similar protein sequence to Pax3 and Pax7. Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD). 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.

Function:
May be involved in transcriptional regulation.

Subunit:
May exist as a monomer or a dimer.

Subcellular Location:
Nucleus. Note=Actively transported through the nuclear pore complex (NPC).

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.

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.

Similarity:
Belongs to the paired homeobox family.
Contains 2 homeobox DNA-binding domains.

SWISS:
Q9UBX2

Gene ID:
100288687

Database links:

Entrez Gene: 100288687 Human

Entrez Gene: 664783 Mouse

Omim: 606009 Human

SwissProt: Q9UBX2 Human

Unigene: 553518 Human



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