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Rabbit Anti-EVC1/FITC Conjugated antibody
Rabbit Anti-EVC1/FITC Conjugated antibody
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.
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  • NO.:SL11282R-FITC
    Clonality:Polyclonal
    Immunogen Species:Rabbit
    React Species:(predicted: Human,)
    Applications:ICC IF
    concentration:1mg/ml
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Details

Product Name Anti-EVC1/FITC
Chinese Name FITC标记的软骨外胚层发育不良相关蛋白抗体
Alias 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.  
Research Area Cell biology  Developmental biology  
Immunogen Species Rabbit
Clonality Polyclonal
React Species (predicted: Human, )
Applications ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
Molecular weight 112kDa
Cellular localization The cell membrane 
Form Lyophilized or Liquid
Concentration 1mg/ml
immunogen KLH conjugated synthetic peptide derived from human EVC1
Lsotype IgG
Purification affinity purified by Protein A
Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage 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.
Product Detail 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:

Entrez Gene: 2121 Human

Omim: 225500 Human

Omim: 604831 Human

SwissProt: P57679 Human



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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