| Gene Symbol | EVC2 |
| Entrez Gene ID | 132884 |
| Full Name | EvC ciliary complex subunit 2 |
| Synonyms | LBN,WAD |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Ellis-van Creveld syndrome, 225500 (3); Weyers acrofacial dysostosis, 193530 (3) |







































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