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EVC2
Ellis van Creveld syndrome 2
EVC2 is 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 Name: | Ellis van Creveld syndrome 2 |
| Synonyms: | EVC2, Ellis van Creveld syndrome 2, LBN, Limbin |
| Target Sequences: | NP_667338.3 Q86UK5 |
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