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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EVC2-20-RE | 20 (40 μL) | 200 μL |  |
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| EVC2-20-OR | 20 (40 μL) | 200 μL |  |
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| EVC2-20-GO | 20 (40 μL) | 200 μL |  |
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| EVC2-20-GR | 20 (40 μL) | 200 μL |  |
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| EVC2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : EVC2
Gene Name : EvC ciliary complex subunit 2
Chromosome : CHR 4: 570,954,7-553,192,0
Locus : 4p16.2
Alt. Genes : CLEC3A
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