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PA1-25095 detects GJB1 from human and rat samples.
PA1-25095 has been successfully used in Western blot and immunohistochemistry (frozen) procedures. Predicted band size 27 kDa.
The PA1-25095 immunogen is a synthetic peptide, conjugated to KLH, corresponding to residues L(106) R L E G H G D P L H L E E V K R H K(124) of GJB1.
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.
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