GJB6

(redirected from connexin-30)

GJB6

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

GJB6

A gene on chromosome 13q11-q12.1|13q12 that encodes a beta chain of the gap junction protein family or connexions.

Molecular pathology
GJB6 mutations occur in some hereditary forms of deafness and hidrotic ectodermal dysplasia.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
HidED is caused by mutations in the GJB6 gene, located on chromosome 13 (locus 13q12), which encodes connexin-30, a component of intercellular gap junctions.
A novel deletion involving the connexin-30 gene, del(GJB6d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Prevalende of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.