Recombinant Human Gap junction beta-6 protein (GJB6), Truncated

Uniprot Id

O95452

Target Species

Human

Target Name

GJB6

Target Full Name

Gap junction beta-6 protein

Target Function

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.

Target Involvement

Ectodermal dysplasia 2, Clouston type (ECTD2); Deafness, autosomal recessive, 1B (DFNB1B); Deafness, autosomal dominant, 3B (DFNA3B)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Target Protein Families

Connexin family, Beta-type (group I) subfamily

Target Synonyms

GJB6; Gap junction beta-6 protein; Connexin-30; Cx30

Target Background

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.