Protein Name gap junction protein beta 2
Organism Homo sapiens
Gene ID 2706
Gene Symbol

GJB2

UniProt P29033 (CXB2_HUMAN), H9U1J4 (H9U1J4_HUMAN)
Relationships Total Number of functionally related compound(s) : 181
Total Number of Articles : 203
Description

gap junction protein beta 2

Gene Summary

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. [provided by RefSeq, Oct 2008]

synonyms
  • gap junction beta-2 protein
  • connexin 26
  • gap junction beta 2 proteinc
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Properties