Full Product Name
EVC Antibody - N-terminal region
Product Gene Name
anti-EVC antibody
[Similar Products]
Product Synonym Gene Name
EVC1; EVCL; DWF-1[Similar Products]
Antibody/Peptide Pairs
EVC peptide (MBS3245791) is used for blocking the activity of EVC antibody (MBS3220997)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
Synthetic peptide located within the following region: CRAGRQRTRH QKDDTQNLLK NLESNAQTPS ETGSPSRRRK REVQMSKDKE
3D Structure
ModBase 3D Structure for P57679
Purity/Purification
Affinity purified
Form/Format
Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Immunogen
The immunogen is a synthetic peptide directed towards the N terminal region of human EVC
Preparation and Storage
For short term use, store at 2-8 degree C up to 1 week. For long term storage, store at -20 degree C in small aliquots to prevent freeze-thaw cycles.
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
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.
Product Categories/Family for anti-EVC antibody
Polyclonal; Membrane & Traffic; Disease Related;
Applications Tested/Suitable for anti-EVC antibody
Western Blot (WB)
Western Blot (WB) of anti-EVC antibody
Host: Rabbit
Target Name: EVC
Sample Tissue: Human OVCAR-3 Whole Cell lysates
Antibody Dilution: 1ug/ml
NCBI/Uniprot data below describe general gene information for EVC. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001293019.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001306090.1
[Other Products]
UniProt Primary Accession #
P57679
[Other Products]
UniProt Related Accession #
P57679[Other Products]
NCBI Official Full Name
ellis-van Creveld syndrome protein isoform 2
NCBI Official Synonym Full Names
EvC ciliary complex subunit 1
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. A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene.">the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene.
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