Specifications
Immunogen
A synthetic peptide of human GJB1 is used for rabbit immunization.
Target
Alternative Names
GJB1; gap junction protein, beta 1, 32kDa; CMTX, CMTX1, gap junction protein, beta 1, 32kD (connexin 32, Charcot Marie Tooth neuropathy, X linked) , gap junction protein, beta 1, 32kDa (connexin 32) , gap junction protein, beta 1, 32kDa (connexin 32, Char
Product Background
Antigen 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.
Pathway
Calcium Regulation in the Cardiac Cell, organism-specific biosystem; Gap junction assembly, organism-specific biosystem; Gap junction trafficking, organism-specific biosystem; Gap junction trafficking and regulation, organism-specific biosystem; Membrane Trafficking, organism-specific biosystem; Oligomerization of connexins into connexons, organism-specific biosystem; Transport of connexins along the secretory pathway, organism-specific biosystem;
Citations
Publication ()
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