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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005