GJB4 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CX30.3 - Connexin 30.3 Gene - EKV - EKVP2 - Gap Junction Protein Beta 4 wt Allele - Gap Junction Protein, Beta 4 (Connexin 30.3) Gene - Gap Junction Protein, Beta 4 Gene - Gap Junction Protein, Beta-4 Gene