软骨外胚层发育不良相关蛋白抗体

英文名称    EVC1    

中文名称    软骨外胚层发育不良相关蛋白抗体    

别    名    Ellis van Creveld syndrome DWF 1; DWF1; Ellis van Creveld syndrome protein; Ellis-van Creveld syndrome; EVC; EVC1; EVC 1; EVC-1; EVCL; MGC105107; EVC_HUMAN.    

说 明 书    0.1ml  0.2ml      

研究领域    细胞生物  发育生物学      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human,     

产品应用    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 软骨外胚层发育不良相关蛋白抗体（石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.    

分 子 量    112kDa    

细胞定位    细胞膜     

性    状    Lyophilized or Liquid    

浓    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human EVC1    

亚    型    IgG    

纯化方法    affinity purified by Protein A    

储 存 液    Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4    

保存条件    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.    

软骨外胚层发育不良相关蛋白抗体产品介绍    background:

EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects. 

Function:
Ellis van Creveld syndrome is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. Defects in this protein are a cause of Ellis van Creveld syndrome (EVC).

Subunit:
Interacts with EVC2 (By similarity). 

Subcellular Location:
Membrane; Single pass membrane protein

Tissue Specificity:
Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung. 

DISEASE:
Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC) [MIM:225500]; also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. 
Defects in EVC are a cause of acrofacial dysostosis Weyers type (WAD) [MIM:193530]; also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. 

Database links:
UniProtKB/Swiss-Prot: P57679.1

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

软骨外胚层发育不良相关蛋白抗体

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hz-0636R P38 MAPK(Phospho-Thr180/Tyr182)  磷酸化-丝裂原活化蛋白激酶p38抗体（P-p38 MAPK）

hz-2210R phospho-p38 MAPK/MAPK14(Thr180/Tyr182)  磷酸化丝裂原活化蛋白激酶p38抗体

hz-1689R MKK3/MEK3  丝裂原活化蛋白激酶MKK3抗体

hz-3274R Phospho-MKK3(Ser189)/MKK6(Ser207)  磷酸化丝裂原活化蛋白激酶MKK3/6抗体

hz-4124R MEK5/MAP2K5  丝裂原活化蛋白激酶激酶5抗体

hz-5429R phospho-MEK5(Ser142)  磷酸化丝裂原活化蛋白激酶激酶5抗体

hz-1977R SEK1/MKK4  丝裂原活化蛋白激酶激酶4抗体

hz-3391R Phospho-MKK4(Ser80)  磷酸化丝裂原活化蛋白激酶激酶4抗体

hz-3392R Phospho-SEK1/MKK4 (Ser257)  磷酸化丝裂原活化蛋白激酶激酶4抗体

hz-3693R Phospho-SEK1/MKK4 (Thr261)  磷酸化丝裂原活化蛋白激酶激酶4抗体

hz-3394R Phospho-SEK1/MKK4 (Ser257/Thr261)  磷酸化丝裂原活化蛋白激酶激酶4抗体

hz-5430R phospho-MEK5(Ser311+Thr315)  磷酸化丝裂原活化蛋白激酶激酶5抗体

hz-5431R phospho-MEK5(Ser129)  磷酸化丝裂原活化蛋白激酶激酶5抗体

hz-2911R MEK6  丝裂原活化蛋白激酶MKK6抗体

hz-3275R Phospho-MEK6 (Ser207)  磷酸化丝裂原活化蛋白激酶MKK6抗体

hz-3276R Phospho-MEK6 (Ser202)  磷酸化丝裂原活化蛋白激酶MKK6抗体

hz-5432R phospho-MEK5(Ser137)  磷酸化丝裂原活化蛋白激酶激酶5抗体

hz-1979R MKK7/ERK7  丝裂原活化蛋白激酶MKK7抗体

hz-3277R Phospho-MKK7 (Ser271/Thr275)  磷酸化丝裂原活化蛋白激酶MKK7抗体

hz-0033R P53 protein(wt-p53)  肿瘤抑制基因P53蛋白抗体（野生型P53）

hz-2090R P53(wt-p53)  肿瘤抑制基因抗体（野生型P53）

hzm-2346M P53(wt-p53) (D2F7)  肿瘤抑制基因野生型P53单抗

hz-0913R Mtp53(N235K N239Y)  突变型P53抗体

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hz-2740R p53BP1/53BP1  p53结合蛋白1抗体

hz-3702R phospho-P53(Ser15)  磷酸化肿瘤抑制基因P53抗体

hz-3703R phospho-P53(Ser20)  磷酸化肿瘤抑制基因P53抗体

hz-3704R phospho-P53(Ser315)  磷酸化肿瘤抑制基因P53抗体

hz-3705R phospho-P53(Ser33)  磷酸化肿瘤抑制基因P53抗体

hz-3706R phospho-P53(Ser37)  磷酸化肿瘤抑制基因P53抗体

hz-3707R phospho-P53(Ser46)  磷酸化肿瘤抑制基因P53抗体