Abcam, ab171952, Anti-Ellis van Creveld syndrome antibody [EPR10408]

Size: 100µL / 1mL
Rabbit Recombinant Monoclonal Ellis van Creveld syndrome antibody. Suitable for WB, ICC/IF and reacts with Human samples. Cited in 1 publication.
Key facts
Host species:Rabbit,
Clonality:Monoclonal,
Clone number:EPR10408,
Isotype:IgG,
Carrier free:No,
Reacts with:Human,
Applications:ICC/IF, WBSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:The exact immunogen used to generate this antibody is proprietary information.

Product details:
Patented technology
Our RabMAb
technology is a patented hybridoma-based technology for making rabbit monoclonal antibodies. For details on our patents, please refer to
RabMAb® patents
What are the advantages of a recombinant monoclonal antibody?
This product is a recombinant monoclonal antibody, which offers several advantages including:
- High batch-to-batch consistency and reproducibility
- Improved sensitivity and specificity
- Long-term security of supply
- Animal-free batch production
For more information, read more on
recombinant antibodies

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Protein A, Storage buffer-pH: 7.2 - 7.4Constituents: PBS, 40% Glycerol (glycerin, glycerine), 0.35% Sodium citrate, 0.17% Sodium chloride, 0.05% BSA, 0.03% EDTA, Shipped at conditions-Blue Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Ellis-van Creveld syndrome (EVC syndrome) is a rare genetic disorder also known as chondroectodermal dysplasia. The condition arises due to mutations in the EVC and EVC2 genes which encode proteins involved in the Hedgehog signaling pathway. These proteins function together as part of a multiprotein complex that affects the transport of Gli transcription factors. Structurally EVC proteins are not separately described with specific molecular masses because EVC functions in concert with other components. These proteins show expression primarily in tissues related to bone and tooth development including cartilaginous and ectodermal tissues.
Biological function summary
EVC and EVC2 proteins interact with other members of the Hedgehog signaling pathway orchestrating the development of skeletal elements and digits. They form part of the protein complex within the primary cilia which are microtubule-based organelles essential for signal transduction in developmental pathways. Proper functioning of this complex regulates the activity and movement of Gli transcription factors which are pivotal in gene expression for cell differentiation and growth during embryogenesis.
Pathways
Ellis-van Creveld syndrome is deeply linked with the Hedgehog signaling pathway important for embryonic development and morphogenesis. This pathway includes proteins such as Smoothened (SMO) and Patched (PTCH1) which interact upstream of EVC proteins to modulate signaling strength and duration. Due to its role in the Hedgehog pathway alteration in EVC function may disrupt normal signaling activities leading to developmental anomalies.
Ellis-van Creveld syndrome manifests in symptoms such as skeletal dysplasia and polydactyly with its roots in the malfunction of Hedgehog pathway signaling. This disorder shows a distinct connection to diseases involving ciliopathies where other ciliary proteins like IFT proteins might show related dysfunctions. The genetic basis involving EVC and EVC2 provides an important link to understanding the pathogenesis of these structural and developmental conditions.