GJB1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GJB1 wild-type allele is located in the vicinity of Xq13.1 and is approximately 13 kb in length. This allele, which encodes gap junction beta-1 protein, plays a role in gap junction-mediated facilitated diffusion. Mutation of the gene is associated with X-linked dominant Charcot-Marie-Tooth neuropathy 1.

**Synonyms:** - CMTX - CMTX1 - CX32 - Charcot-Marie-Tooth Neuropathy, X-Linked Gene - Connexin 32 Gene - Gap Junction Protein Beta 1 wt Allele - Gap Junction Protein, 32-kD Gene - Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) Gene - Gap Junction Protein, Beta 1, 32kDa (Connexin 32) Gene - Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) Gene - Gap Junction Protein, Beta 1, 32kDa Gene - Gap Junction Protein, Beta-1 Gene - Liver Connexin Gene