Gene: EVC2

Alternate names for this Gene: LBN|WAD

Gene Summary: This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.2

Description of this Gene: EvC ciliary complex subunit 2

Type of Gene: protein-coding

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