connexin-26

GJB2

A gene on chromosome 13q11-q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.

connexin-26

One of a number of gap junction connexin proteins. Gap junctions between cells allow the passage of ions and small molecules from one cell to another. The gene for connexin-26 has been located and is situated on chromosome 13. A single base deletion mutation of this gene results in the complete absence of this connexin, and the only effect detected to date is a recessive form of sensorineural deafness.
References in periodicals archive ?
High prevalence of the W24X mutation in the gene encoding Connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive non-syndromic hearing loss.
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.