This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| C2CD3-20-RE | 20 (40 μL) | 200 μL |  |
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| C2CD3-20-OR | 20 (40 μL) | 200 μL |  |
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| C2CD3-20-GO | 20 (40 μL) | 200 μL |  |
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| C2CD3-20-GR | 20 (40 μL) | 200 μL |  |
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| C2CD3-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Symbol : C2CD3
Gene Name : C2 calcium dependent domain containing 3
Chromosome : CHR 11: 741,712,09-740,125,77
Locus : 11q13.4
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