GJB1


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GJB1

A gene on chromosome Xq13.1 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB1 mutations cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy.
References in periodicals archive ?
To validate the HRM method, we selected 18 known patient samples that were positive for GJB1 mutations (10 males and 8 females) and 4 control individuals (3 females and 1 male).
Primers to amplify 4 overlapping amplicons were designed with the Oligo Program Version 6 (Molecular Biology Insights) to provide comprehensive coverage of the GJB1 single-exon 852-bp open reading frame.
A total of 18 known GJB1 mutations (mutations 1-18, Fig.