GJB6
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.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
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.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the connexin family. Beta-type (group I) subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell junction
- Gap junction
Alternative names
Gap junction beta-6 protein, Connexin-30, Cx30, GJB6