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X連鎖生長調(diào)控因子GCFX抗體

英文名稱 SHOX
中文名稱 X連鎖生長調(diào)控因子GCFX抗體
別    名 GCFX; Growth control factor, X linked; Homo sapiens shox gene, alternatively spliced products, complete cds; PHOG; Pseudoautosomal homeobox containing osteogenic; Pseudoautosomal homeobox containing osteogenic protein; Pseudoautosomal homeobox-containing osteogenic protein; Short stature homeobox containing protein; Short stature homeobox protein; Short stature homeobox-containing protein; SHOX; SHOX_HUMAN; SHOXY; SS; Turner syndrome.
  
說 明 書 0.2ml  
研究領(lǐng)域 細(xì)胞生物  發(fā)育生物學(xué)  信號轉(zhuǎn)導(dǎo)  生長因子和激素  表觀遺傳學(xué)  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human, Mouse, Rat, Dog, Pig, Cow, Zebrafish, 
產(chǎn)品應(yīng)用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蠟切片需做抗原修復(fù)） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 32kDa
細(xì)胞定位 細(xì)胞核 
性    狀 Lyophilized or Liquid
濃    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human SHOX
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.

PubMed PubMed
產(chǎn)品介紹 background:
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

Function:
Controls fundamental aspects of growth and development.

Subcellular Location:
Nucleus.

Tissue Specificity:
SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells.

DISEASE:
Defects in SHOX are the cause of Leri-Weill dyschondrosteosis (LWD) [MIM:127300]. 
LWD is a dominantly inherited skeletal dysplasia characterized by moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna. Defects in SHOX are a cause of Langer mesomelic dysplasia (LMD) [MIM:249700]. LMD is an autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and inlect is normal in all affected subjects reported to date.
Defects in SHOX are a cause of idiopathic short stature (ISS) [MIM:300582]. Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations of national height standards in the absence of specific causative disorders.

Similarity:
Belongs to the paired homeobox family. Bicoid subfamily.
Contains 1 homeobox DNA-binding domain.

Database links:

Entrez Gene: 615159 Cow

Entrez Gene: 491706 Dog

Entrez Gene: 6473 Human

Omim: 312865 Human

SwissProt: O15266 Human

Unigene: 105932 Human

Important Note:
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