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]

Gap Junction Protein Beta 6

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.

Aging Source: Ensembl
Apoptotic process Source: Ensembl
Cell-cell signaling Source: GO_Central
Cellular response to glucose stimulus Source: Ensembl
Ear morphogenesis Source: Ensembl
Gap junction assembly Source: ARUK-UCL
Gap junction-mediated intercellular transport Source: ARUK-UCL
Inner ear development Source: Ensembl
Maintenance of blood-brain barrier Source: ARUK-UCL
Negative regulation of cell population proliferation Source: Ensembl
Response to electrical stimulus Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Sensory perception of sound Source: ProtInc
Sinoatrial node development Source: BHF-UCL
Transmembrane transport Source: ARUK-UCL

Cell membrane; Gap junction

Ectodermal dysplasia 2, Clouston type (ECTD2):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.
Deafness, autosomal recessive, 1B (DFNB1B):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Deafness, autosomal dominant, 3B (DFNA3B):
A form of non-syndromic sensorineural hearing loss characterized by a variable phenotype, ranging from bilateral middle to high frequency hearing loss to profound sensorineural deafness. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Cytoplasmic: 1-22
Helical: 23-45
Extracellular: 46-75
Helical: 76-98
Cytoplasmic: 99-131
Helical: 132-154
Extracellular: 155-192
Helical: 193-215
Cytoplasmic: 216-261