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Immunogen sequence: LNGNQLMEKR ETEGKDSKRN YYSRGHRSIP GVAIDGENNM RQSPQTVFSL PANCDWKPRW LRATWGSSTE HENRGSPPKG N
Highest antigen sequence identity to the following orthologs: Mouse - 27%, Rat - 26%.
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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Protein Aliases: connexin 36; connexin 59; Connexin-36; Connexin-58; Connexin-59; Cx36; Cx58; Cx59; gap junction alpha 10; Gap junction alpha-10 protein; Gap junction alpha-9 protein; Gap junction delta-2 protein; gap junction protein, alpha 9, 59kDa; gap junction protein, delta 2, 36kDa
Gene Aliases: CX36; CX58; CX59; GJA10; GJA9; GJD2
UniProt ID: (Human) P57773, (Human) Q9UKL4
Entrez Gene ID: (Human) 81025, (Human) 57369
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