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 ?
Connexin 30 and connexin 26 are upregulated in psoriatic skin and have been associated with epidermal hyperproliferation [99, 102, 103].
Also, mutation of GJB6, coding for connexin 30, has been reported to be associated to hearing dysfunction (ARNSHL DFNB1B).
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
Xia et al., "Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands," Genetics in Medicine, vol.
GJB4 and GJB6 code for gap junction proteins connexin 30.3 and connexin 30, respectively.
Giaume, "Neurons control the expression of connexin 30 and connexin 43 in mouse cortical astrocytes," Glia, vol.
[6] Could other potential candidate genes, GJB6 (connexin 30) and GJA1 (connexin 43), lead to non-syndromic deafness in Africans?