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gjb2

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Official Full Name
gap junction protein, beta 2, 26kDa
Background
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. 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 are responsible for as much as 50% of pre-lingual, recessive deafness.
Synonyms
GJB2; gap junction protein, beta 2, 26kDa; DFNA3, DFNB1, gap junction protein, beta 2, 26kD (connexin 26) , gap junction protein, beta 2, 26kDa (connexin 26); gap junction beta-2 protein; connexin 26; CX26; NSRD1; HID; KID; PPK; DFNA3; DFNB1; DFNA3A; DF; DFNB1A

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