> Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB2
Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB2
Definition : 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.
Entry Terms : "Keratitis-Ichthyosis-Deafness Gene Mutation Detection Reagents" , "Neurosensory Deafness with Palmoplantar Keratoderma Hyperkeratosis Gene Mutation Detection Reagents" , "DFNB1 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "DFNA3 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "Autosomal Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Deafness Gene Mutation Detection Reagents" , "GJB2 Gene Mutation Detection Reagents"
UMDC code : 24445
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