Entrez gene ID | | 132884 |
Official gene symbol | | EVC2 |
Full name | | Ellis van Creveld syndrome 2 |
Aliases | | ,LBN, |
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] |
Location | | Chromosome: 4 Locus: 4p16.2-p16.1 |
Gene position | | 5711275 - 5564146 Map Viewer |
Gene orientation | | minus |
Gene size | | 147130 bp |
Gene sequence |
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OMIM ID | | 607261 |
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