EVC, Polyclonal Antibody

Anti -EVC (Ellis-van Creveld Syndrome Protein, DWF-1)

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

Chromosome: 4; NC_000004.11 (5712924..5816031). Location: 4p16

Polyclonal

IgG

Mouse

Recognizes human EVC. Species Crossreactivity: mouse.

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-EVC antibody 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.

Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.

Antibodies; Abs to Disease Markers

Western Blot (WB)

Suitable for use in Western Blot.

111,990 Da[Similar Products]

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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