GJB2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein, is involved in the assembly and function of gap junctions. Mutation in the gene is associated with syndromic deafness.

**Synonyms:** - CX26 - DFNA3 - DFNA3A - DFNB1 - DFNB1A - Gap Junction Protein Beta 2 wt Allele - Gap Junction Protein, 26kD Gene - Gap Junction Protein, Beta 2, 26kD (Connexin 26) Gene - Gap Junction Protein, Beta 2, 26kDa (Connexin 26) Gene - Gap Junction Protein, Beta 2, 26kDa Gene - Gap Junction Protein, Beta-2 Gene - HID - KID - NSRD1 - PPK