Full Product Name
EVC (Ellis-van Creveld Syndrome Protein, DWF-1)
Product Synonym Names
Anti -EVC (Ellis-van Creveld Syndrome Protein, DWF-1)
Product Gene Name
anti-EVC antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
VLERQRLMQC DLEEEENVRA TEAVVALCQE LYFSTVDTFQ KFVDALFLQT LPGMTGLPPE ECDYLRQEVQ ENAAWQLGKS NRFRRQQWKL FQELLEQDQQ VWMEECALSS
Chromosome Location
Chromosome: 4; NC_000004.11 (5712924..5816031). Location: 4p16
3D Structure
ModBase 3D Structure for P57679
Specificity
Recognizes human EVC.
Purity/Purification
Affinity Purified
Purified by Protein A affinity chromatography.
Form/Format
Supplied as a liquid in PBS, pH 7.2.
Immunogen
Partial recombinant corresponding to aa493-602 from human EVC (NP_055371) with GST tag. MW of the GST tag alone is 26kD.
Preparation and Storage
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.
Other Notes
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.
Related Product Information for
anti-EVC antibody
Acts as a positive mediator of Hedgehog signaling indispensable for normal endochondral growth and skeletal development.
Product Categories/Family for anti-EVC antibody
Antibodies; Abs to Disease Markers
Applications Tested/Suitable for anti-EVC antibody
ELISA (EL/EIA), Western Blot (WB)
Application Notes for anti-EVC antibody
Suitable for use in ELISA and Western Blot.
Dilution: Sandwich ELISA: The detection limit is 0.3ng/ml as a capture antibody
NCBI/Uniprot data below describe general gene information for EVC. It may not necessarily be applicable to this product.
NCBI Accession #
NP_714928.1
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NCBI GenBank Nucleotide #
NM_153717.2
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UniProt Primary Accession #
P57679
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UniProt Related Accession #
P57679[Other Products]
Molecular Weight
111,990 Da[Similar Products]
NCBI Official Full Name
ellis-van Creveld syndrome protein
NCBI Official Synonym Full Names
Ellis van Creveld syndrome
NCBI Official Symbol
EVC??[Similar Products]
NCBI Official Synonym Symbols
EVC1; EVCL; DWF-1
??[Similar Products]
NCBI Protein Information
ellis-van Creveld syndrome protein
UniProt Protein Name
Ellis-van Creveld syndrome protein
UniProt Synonym Protein Names
DWF-1
Protein Family
Ellis-van Creveld syndrome protein
UniProt Gene Name
EVC??[Similar Products]
UniProt Entry Name
EVC_HUMAN
NCBI Summary for EVC
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]
UniProt Comments for EVC
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
Research Articles on EVC
1. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
Precautions
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Disclaimer
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