GJB6 Antibody – Rabbit Polyclonal

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]

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: apical plasma membrane; cell junction; connexon complex; cytosol; integral to membrane

Biological Process: aging; apoptosis; cell communication; ear morphogenesis; inner ear development; negative regulation of cell proliferation; response to electrical stimulus; response to lipopolysaccharide; sensory perception of sound

Disease: Clouston Syndrome; Deafness, Autosomal Dominant 3b; Deafness, Autosomal Recessive 1a; Deafness, Autosomal Recessive 1b; Deafness, X-linked 2