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Browse our EVC Proteins (EVC)

Full name:
Ellis Van Creveld Syndrome Proteins (EVC)
On www.antibodies-online.com are 7 Ellis Van Creveld Syndrome (EVC) Proteins from 3 different suppliers available. Additionally we are shipping EVC Antibodies (20) and many more products for this protein. A total of 28 EVC products are currently listed.
Synonyms:
dwf-1, EVC, EVC1, EVCL
list all proteins Gene Name GeneID UniProt
EVC 59056 P57680
EVC 2121 P57679

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EVC Proteins (EVC) by Origin

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More Proteins for EVC Interaction Partners

Mouse (Murine) Ellis Van Creveld Syndrome (EVC) interaction partners

  1. it is proposed that Hedgehog (show SHH Proteins) activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 (show EVC2 Proteins) to activate Gli (show GLI1 Proteins) proteins by antagonizing Sufu (show SUFUH Proteins) in the primary cilia

  2. Data show that Evc promotes chondrocyte proliferation, chondrocyte hypertrophy and the differentiation of osteoblasts in the perichondrium and reveal that Evc is essential for intrasphenoidal synchondrosis development.

  3. the presence of Evc and Evc2 (show EVC2 Proteins) at the basal body and cilia membrane is co-dependent. In addition, Evc2 (show EVC2 Proteins), but not Evc, is present in the cell nucleus suggesting movement of Evc2 (show EVC2 Proteins) between the cilium and nucleus.

  4. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog (show SHH Proteins) signal transduction in NIH 3T3 cells in keeping with its dominant effect.

  5. Evc is an intracellular component of the hedgehog (show SHH Proteins) signal transduction pathway that is required for normal transcriptional activation of Ihh (show IHH Proteins) target genes.

  6. EVC and LBN (show EVC2 Proteins) protein colocalize at the tip of the primary atrial septum during murine cardiac development.

Human Ellis Van Creveld Syndrome (EVC) interaction partners

  1. sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 (show EVC2 Proteins) gene and 15 bp duplication in exon 14 of the EVC gene in the two families.

  2. Sequencing of both EVC and EVC2 (show EVC2 Proteins) identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively.

  3. The epigenetically deregulated EVC appears to play an important role for hedgehog (show SHH Proteins) activation.

  4. Molecular analysis of the EVC and EVC2 (show EVC2 Proteins) genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.

  5. We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene

  6. STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.

  7. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog (show SHH Proteins) signal transduction in NIH 3T3 cells in keeping with its dominant effect.

  8. CRMP1 (show CRMP1 Proteins) and EVC genes are located near WFS1 (show WFS1 Proteins), the Wolfram syndrome type 1 gene.

  9. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected

  10. EVC mutation is hypomorphic and that such mutations can cause a phenotype of cardiac and limb defects that is less severe than typical Ellis van Creveld syndrome

EVC Protein Profile

Protein Summary

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.

Alternative names and synonyms associated with EVC

  • Ellis van Creveld syndrome (EVC)
  • Ellis van Creveld syndrome (evc)
  • Ellis van Creveld gene syndrome (Evc)
  • dwf-1 protein
  • EVC protein
  • EVC1 protein
  • EVCL protein

Protein level used designations for EVC

Ellis van Creveld syndrome , Ellis van Creveld protein-like , Ellis van Creveld syndrome protein , Ellis van Creveld gene homolog , EvC protein (Ellis-van Creveld syndrome) , ellis-van Creveld syndrome protein homolog , ellis-van Creveld syndrome protein

GENE ID SPECIES
282874 Bos taurus
422851 Gallus gallus
461097 Pan troglodytes
611166 Canis lupus familiaris
711266 Macaca mulatta
100124788 Xenopus (Silurana) tropicalis
59056 Mus musculus
2121 Homo sapiens
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