GJB2

Synonym(s): CX26, NSRD1, DFNB1, DFNA3

Locus: 13q11-q12

Protein: Gap junction beta-2 protein

Disorder(s):

• Vohwinkel Syndrome
• Ichthyosis, Hystrix-like, with Deafness
• Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
• GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness
• GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness