TEL: +86 571 56623320 EMAIL: [email protected]
Product Name DUX4 Chinese Name 双同源框蛋白4抗体 Alias Double homeobox protein 10; Double homeobox protein 4; Double homeobox protein 4/10; DUX10; DUX4_HUMAN. literatures Specific References (1) | SL12369R 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.Research Area Cell biology Developmental biology Signal transduction Stem cells Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 45kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human DUX4: 53-120/424 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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
Scan Wechat Qrcode