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.