This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GJB1-20-RE | 20 (40 μL) | 200 μL |  |
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| GJB1-20-OR | 20 (40 μL) | 200 μL |  |
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| GJB1-20-GO | 20 (40 μL) | 200 μL |  |
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| GJB1-20-GR | 20 (40 μL) | 200 μL |  |
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| GJB1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Symbol : GJB1
Gene Name : Gap junction protein beta 1
Chromosome : CHR X: 712,152,11-712,252,14
Locus : Xq13.1
Alt. Genes : CLEC3A
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