Non disponible en dehors du Royaume-Uni et de l'Irlande
General description
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)
Immunogen
GJB1 (AAH22426, 75 a.a. ~ 174 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCP
Physical form
Solution in phosphate buffered saline, pH 7.4
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