Human Ellis-van Creveld syndrome protein (EVC) ELISA kit; DWF-1; EVC1; EVCL; MGC105107; Ellis van Creveld syndrome protein; Ellis van Creveld syndrome

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of EVC elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9318253 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Ellis van Creveld syndrome (EVC) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing EVC. The ELISA analytical biochemical technique of the MBS9318253 kit is based on EVC antibody-EVC antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect EVC antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, EVC. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

111,990 Da

Ellis van Creveld syndrome

ellis-van Creveld syndrome protein

Ellis-van Creveld syndrome protein

EVC_HUMAN

This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

EVC: Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development. Defects in EVC are a cause of Ellis-van Creveld syndrome (EVC); 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); 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.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16

Cellular Component: cytoplasm; integral to membrane; cilium

Biological Process: smoothened signaling pathway; muscle development; cartilage development; positive regulation of smoothened signaling pathway; skeletal development

Disease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome

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