GJB6, gap junction protein beta 6

GJB6, gap junction protein beta 6

• Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

• Gene Synonyms (CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, gap junction beta-6 protein, connexin 30, ectodermal dysplasia 2, hidrotic (Clouston syndrome), gap junction protein, beta 6, 30kDa,)
• NCBI Gene ID: 10804
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O95452
  UNIPROT ID#>>A0A024RDS4
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

gap junction protein beta 6 interacts with:

• consortin, connexin sorting protein
  G protein-coupled receptor 61
  LHFPL tetraspan subfamily member 5
  membrane spanning 4-domains A13
  SEC22 homolog A, vesicle trafficking protein
  solute carrier family 10 member 6
  transmembrane protein 218
  transmembrane protein 60

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.