GJB6

(redirected from connexin 30)

GJB6

Notation for a gene for DFNA3.

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.
References in periodicals archive ?
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
We recently found that connexin 30 (Cx30), an astroglial gap junction subunit expressed postnatally, tunes synaptic activity via an unprecedented non-channel function setting the proximity of glial processes to synaptic clefts, essential for synaptic glutamate clearance efficacy.