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ATRX Rabbit pAb (bs-22693R )  
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產品編號 bs-22693R
英文名稱 ATRX Rabbit pAb
中文名稱 ATP依賴性解旋酶ATRX抗體
別    名 alpha thalassemia/mental retardation syndrome X linked homolog; ATP dependent helicase ATRX; ATP-dependent helicase ATRX; ATR2; Atrx; ATRX_HUMAN; DNA dependent ATPase and helicase; Helicase 2, X linked; MGC2094; MRXHF1; RAD54; RAD54L; SFM1; SHS; Transcriptional regulator ATRX; X linked helicase II; X linked nuclear protein; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Znf HX; Znf-HX.  
研究領域 染色質和核信號  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Human (predicted: Mouse,Rat,Rabbit,Pig,Sheep,Cow,Chicken,Dog)
產品應用 ICC/IF=1:25
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 283 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 ATRX: 1641-1740/2492 
亞    型 IgG
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 The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

Function:
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes (PubMed:27029610).

Subcellular Location:
Nucleus

Tissue Specificity:
Ubiquitous.

DISEASE:
Alpha-thalassemia mental retardation syndrome, X-linked
Mental retardation, X-linked, syndromic, with hypotonic facies 1
Alpha-thalassemia myelodysplasia syndrome

Similarity:
Belongs to the SNF2/RAD54 helicase family.
Contains 1 ADD domain.
Contains 1 GATA-type zinc finger.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain.
Contains 1 PHD-type zinc finger.

SWISS:
P46100

Gene ID:
546

Database links:







產品圖片
SH-SY5Y cell; 4% Paraformaldehyde-fixed; Triton X-100 at room temperature for 20 min; Blocking buffer (normal goat serum, C-0005) at 37°C for 20 min; Antibody incubation with (ATRX) polyclonal Antibody, Unconjugated (bs-22693R) 1:25, 90 minutes at 37°C; followed by a conjugated Goat Anti-Rabbit IgG antibody at 37°C for 90 minutes, DAPI (blue, C02-04002) was used to stain the cell nuclei.
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