NCIt synonyms : EKV; EKVP2; CX30.3; Connexin 30.3 Gene; Gap Junction Protein, Beta 4 Gene; Gap Junction Protein Beta 3 wt Allele; Gap Junction Protein Beta 4 wt Allele; Gap Junction Protein, Beta-4 Gene; Gap Junction Protein, Beta 4 (Connexin 30.3) Gene;
NCIt definition : Human GJB4 wild-type allele is located in the vicinity of 1p34.3 and is approximately
3 kb in length. This allele, which encodes gap junction beta-4 protein, plays a role
in gap junction assembly and connexin-dependent facilitative transport. Mutation of
the gene is associated with erythrokeratodermia variabilis et progressiva 2.;
OMIM relation