NP_001103689.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
30,387 Da
NCBI Official Full Name
gap junction beta-6 protein
NCBI Official Synonym Full Names
gap junction protein, beta 6, 30kDa
NCBI Official Synonym Symbols
ED2; EDH; HED; CX30; HED2; DFNA3; ECTD2; DFNA3B; DFNB1B [Similar Products]
NCBI Protein Information
gap junction beta-6 protein; connexin 30; connexin-30; ectodermal dysplasia 2, hidrotic (Clouston syndrome); gap junction protein, beta 6 (connexin 30)
UniProt Protein Name
Gap junction beta-6 protein
UniProt Synonym Protein Names
Connexin-30; Cx30
UniProt Synonym Gene Names
UniProt Entry Name
CXB6_HUMAN
NCBI Summary for GJB6
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]
UniProt Comments for GJB6
GJB6: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. Belongs to the connexin family. Beta-type (group I) subfamily. A connexon is composed of a hexamer of connexins. Interacts with CNST
Protein type: Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 13q12
Cellular Component: connexon complex; apical plasma membrane; integral to membrane; cytosol
Biological Process: negative regulation of cell proliferation; sensory perception of sound; apoptosis; cell communication; response to lipopolysaccharide; ear morphogenesis; response to electrical stimulus; inner ear development; aging
Disease: Deafness, Autosomal Recessive 1a; Clouston Syndrome; Deafness, Autosomal Recessive 1b; Deafness, X-linked 2; Deafness, Autosomal Dominant 3b
Research Articles on GJB6
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Products associated with anti-GJB6 antibody
Pathways associated with anti-GJB6 antibody
Diseases associated with anti-GJB6 antibody
Organs/Tissues associated with anti-GJB6 antibody
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