Gene Symbol | EVC2 |
Entrez Gene ID | 132884 |
Full Name | EvC ciliary complex subunit 2 |
Synonyms | LBN,WAD |
General protein information |
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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) |