Anti-EVC monoclonal antibody (DCABH-11467) Made to order

Rabbit anti-Human EVC monoclonal antibody for WB, ELISA

View other EVC antibodies

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human
Immunogen
A synthetic peptide of human EVC is used for rabbit immunization.
Conjugate
Unconjugated

Target


Alternative Names
EVC; Ellis van Creveld syndrome; ellis-van Creveld syndrome protein; DWF 1; EVC1; EVCL
Entrez Gene ID
UniProt ID

Product Background


Gene summary
EVC (EvC Ciliary Complex Subunit 1) is a Protein Coding gene. Diseases associated with EVC include weyers acrofacial dysostosis and ellis-van creveld syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. 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.
Antigen Description
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. Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Ellis-van Creveld syndrome (EVC) [MIM:225500]: 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.

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References


Polymeropoulos, MH; Ide, SE; et al. The gene for the Ellis van Creveld syndrome is located on chromosome 4p16. GENOMICS 35:1-5(1996).
Trujillo, AE; Miyatake, MN; et al. A cheating prevention EVC scheme using watermarking techniques. REVISTA FACULTAD DE INGENIERIA-UNIVERSIDAD DE ANTIOQUIA :30-42(2012).

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