GJB2

(redirected from NSRD1)

GJB2

Notation for a gene for DFNA3 and the gene for DFNB1.
Farlex Partner Medical Dictionary © Farlex 2012

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.