This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TMEM107-20-RE | 20 (40 μL) | 200 μL |  |
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| TMEM107-20-OR | 20 (40 μL) | 200 μL |  |
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| TMEM107-20-GO | 20 (40 μL) | 200 μL |  |
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| TMEM107-20-GR | 20 (40 μL) | 200 μL |  |
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| TMEM107-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Gene Symbol : TMEM107
Gene Name : Transmembrane protein 107
Chromosome : CHR 17: 817,639,5-817,297,7
Locus : 17p13.1
Alt. Genes : YAF2
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