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Mouse Anti-EVC2 Recombinant Antibody (CBFYE-1371) (CBMAB-E1988-FY)


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Summary

Host Animal
Mouse
Specificity
Mouse, Rat, Human
Clone
CBFYE-1371
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Mouse, Rat, Human
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
Concentration
0.2 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Evc Ciliary Complex Subunit 2
Introduction
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
Human132884
Mouse68525
Rat289711
UniProt ID
HumanQ86UK5
MouseQ8K1G2
RatD3ZWN3
Alternative Names
EvC Ciliary Complex Subunit 2; Ellis-Van Creveld Syndrome Protein 2; Ellis Van Creveld Syndrome 2; Limbin; LBN; WAD
Research Area
Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
Biological Process
Smoothened signaling pathway Source: UniProtKB
Cellular Location
Nucleus; Cilium basal body; Cell membrane; Cilium membrane; Cilium. 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: 27-300
Helical: 301-321
Cytoplasmic: 322-1308
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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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