This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment
Pathway
Calcium Regulation in the Cardiac Cell, organism-specific biosystem; Gap junction assembly, organism-specific biosystem; Gap junction trafficking, organism-specific biosystem; Gap junction trafficking and regulation, organism-specific biosystem; Membrane
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