Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (PubMed:17551008, PubMed:19340074, PubMed:21094651, PubMed:26753910). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:16849369, PubMed:19384972, PubMed:21094651).
Deafness, autosomal recessive, 1A
DFNB1A
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 is caused by variants affecting the gene represented in this entry.
Deafness, autosomal dominant, 3A
DFNA3A
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 is caused by variants affecting the gene represented in this entry.
Vohwinkel syndrome
VOWNKL
An autosomal dominant disease characterized by hyperkeratosis, constriction on fingers and toes and congenital deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
Keratoderma, palmoplantar, with deafness
PPKDFN
An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
KIDAD
An autosomal dominant form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.
None
The disease is caused by variants affecting the gene represented in this entry.
Bart-Pumphrey syndrome
BAPS
An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.
None
The disease is caused by variants affecting the gene represented in this entry.
Ichthyosis hystrix-like with deafness syndrome
HID syndrome
An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the connexin family. Beta-type (group I) subfamily.
Gap junction beta-2 protein, Connexin-26, Cx26, GJB2
Proteins
Neuroscience
26215Da
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