Mouse Anti-EVC2 Recombinant Antibody (CBFYE-1371) (V2LY-0825-LY903)

Name: Mouse Anti-EVC2 Recombinant Antibody (CBFYE-1371)
SKU: V2LY-0825-LY903
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYE-1371

Application

WB, IP, IF, ELISA

Immunogen

Amino acids 370-508 mapping within an internal region of human EVC2.

Host Species

Mouse

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG1, κ

Clonality

Monoclonal Antibody

Application Notes

Application	Note
WB	1:100-1:1,000
IP	1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)	1:50-1:500
ELISA	1:100-1:1,000

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

Format

Liquid

Buffer

PBS, gelatin

Preservative

Sodium azide

Concentration

0.2 mg/ml

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

Evc Ciliary Complex Subunit 2

Entrez Gene ID

Human	132884
Mouse	68525
Rat	289711

UniProt ID

Human	Q86UK5
Mouse	Q8K1G2
Rat	D3ZWN3

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

Sato, H., Suga, K., Suzue, M., Honma, Y., Hayabuchi, Y., Miyai, S., ... & Nakagawa, R. (2022). Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome. Human Genome Variation, 9(1), 1-4.

Öztürk, Ö., Bağış, H., Bolu, S., & Çevik, M. Ö. (2021). Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey. Clinical Case Reports, 9(4), 1973-1976.

ÖZTÜRK, Ö., Bolu, S., & Çevik, M. Ö. (2020). Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from Turkey. Authorea Preprints.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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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