Evc

Homo sapiens

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. [provided by RefSeq, Jul 2008]

Evc

Rattus norvegicus

Involved in cartilage development. Predicted to be located in ciliary basal body. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome; Weyers acrofacial dysostosis; and ventricular septal defect. Orthologous to human EVC (EvC ciliary complex subunit 1); INTERACTS WITH aflatoxin B1; atrazine; bisphenol A.

Evc2

Rattus norvegicus

Predicted to be involved in smoothened signaling pathway. Predicted to be located in cilium and nucleus. Predicted to be part of plasma membrane protein complex. Predicted to be active in ciliary membrane. Human ortholog(s) of this gene implicated in Ellis-Van Creveld syndrome and Weyers acrofacial dysostosis. Orthologous to human EVC2 (EvC ciliary complex subunit 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1; bisphenol A.

Evc2

Homo sapiens

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. [provided by RefSeq, Oct 2009]