Gene: EVC
Alternate names for this Gene: DWF-1|EVC1|EVCL
Gene 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4p16.2
Description of this Gene: EvC ciliary complex subunit 1
Type of Gene: protein-coding
rs1017946059 in
EVC gene and
Ellis-Van Creveld Syndrome
PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
rs1017946059 in
EVC gene and
Weyers acrofacial dysostosis
PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.