| Gene Symbol |
EVC2
|
| Gene Synonyms |
LBN
WAD |
| Gene Full Name |
EvC ciliary complex subunit 2 |
| 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. [provided by RefSeq, Oct 2009] |
| Alternative Names |
Ellis van Creveld syndrome 2
ellis-van Creveld syndrome protein 2 |
| Molecular Weight(MW) |
147kDa |
| Cellular Localization |
Cell membrane;Cytoplasm, cytoskeleton, cilium basal body;Cell projection, cilium;Cell projection, cilium membrane;Nucleus |
