Structural component of gap junctions (By similarity). 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 (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity).
Erythrokeratodermia variabilis et progressiva 2
EKVP2
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases.
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-4 protein, Connexin-30.3, Cx30.3, GJB4
Proteins
Developmental Biology
30419Da
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