Connexin-30 | definition of connexin-30 by Medical dictionary
GJB6 (redirected from connexin-30)
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.
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.