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  • Molecular assay reagents intended to identify mutations in the gap junction protein, beta 2 (26kDa connexin 26) (GJB2) gene, located at chromosome 13q11-q12, which encodes for a gap juniction pprotein, beta 2 (connexin 26) forms channels called gap junctions between neighboring cells. Mutations at this locus have been identified in patients with neurosensory nonsyndromic hearing loss and deafness type 3 (NSHLD3); they are also associated with Vohwinkel\'s syndrome, palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome, and keratitis-ichthyosis-deafness (KID) syndrome.
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