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Rabbit Anti-SMCHD1/HRP Conjugated antibody (bs-19929R-HRP)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-19929R-HRP
英文名稱 Rabbit Anti-SMCHD1/HRP Conjugated antibody
中文名稱 辣根過氧化物酶標記的SMCHD1蛋白抗體
別    名 KIAA0650; SMC hinge domain containing 1; SMC hinge domain containing protein 1; Smchd1; SMHD1_HUMAN; Structural maintenance of chromosomes flexible hinge domain containing 1; Structural maintenance of chromosomes flexible hinge domain-containing protein 1.  
規(guī)格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領域 細胞生物  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Mouse, Rat,  (predicted: Human, Dog, Pig, Cow, Horse, Rabbit, Sheep, )
產品應用 ELISA=1:100-1000 IHC-P=1:50-200 IHC-F=1:50-200 ICC=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 226kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SMCHD1
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產品介紹 background:
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

Function:
Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells.

Subcellular Location:
Chromosome

DISEASE:
The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.
Disease description:A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Database links:

Entrez Gene: 23347 Human

Entrez Gene: 74355 Mouse

Omim: 614982 Human

SwissProt: A6NHR9 Human

SwissProt: Q6P5D8 Mouse

Unigene: 8118 Human

Unigene: 194450 Mouse



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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