{"symbol":"GJB3","synonyms":["DFNA2","DFNA2B","EKV","CX31","EKVP1"],"name":"gap junction protein, beta 3, 31kDa","description":"This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":2707,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2707","proteins":[{"symbol":"CXB3_HUMAN","href":"/api/1.0/protein/CXB3_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}