GJB3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GJB3 wild-type allele is located in the vicinity of 1p34.3 and is approximately 5 kb in length. This allele, which encodes gap junction beta-3 protein, is involved in the intercellular transport of ions and small molecules. Mutation of the gene is associated with erythrokeratodermia variabilis et progressiva 1, autosomal dominant deafness 2B and digenic deafness GJB2/GJB3.

**Synonyms:** - CX31 - Connexin 31 Gene - DFNA2 - DFNA2B - EKV - EKVP1 - Erythrokeratodermia Variabilis Gene - Gap Junction Protein Beta 3 wt Allele - Gap Junction Protein, 31-kD Gene - Gap Junction Protein, Beta 3, 31kD (Connexin 31) Gene - Gap Junction Protein, Beta 3, 31kDa (Connexin 31) Gene - Gap Junction Protein, Beta 3, 31kDa Gene - Gap Junction Protein, Beta-3, Gene