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Mouse Anti-EVC (AA 493-602) Recombinant Antibody (CBFYE-1369) (CBMAB-E1986-FY)

This product is mouse antibody that recognizes EVC. The antibody CBFYE-1369 can be used for immunoassay techniques such as: ELISA, WB.
See all EVC antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYE-1369
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Immunogen
Partial recombinant corresponding to aa493-602 from human EVC with GST tag. MW of the GST tag alone is 26kD.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 493-602

Target

Full Name
Ellis van Creveld syndrome
Introduction
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.
Entrez Gene ID
2121
UniProt ID
P57679
Alternative Names
EvC Ciliary Complex Subunit 1; Ellis Van Creveld Syndrome; Ellis Van Creveld Protein; DWF-1; Ellis-Van Creveld Syndrome Protein; EVC1; EVCL
Research Area
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
Biological Process
Cartilage development Source: Ensembl
Endochondral bone growth Source: UniProtKB
Muscle organ development Source: ProtInc
Positive regulation of smoothened signaling pathway Source: UniProtKB
Skeletal system development Source: ProtInc
Smoothened signaling pathway Source: InterPro
Cellular Location
Cilium basal body; Cell membrane; Cilium membrane; Cilium. EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner.
Involvement in disease
Ellis-van Creveld syndrome (EVC):
An autosomal recessive condition 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.
Acrofacial dysostosis, Weyers type (WAD):
An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
Topology
Extracellular: 1-25
Helical: 26-48
Cytoplasmic: 49-992
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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