GJB6


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Related to GJB6: GJB2

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 ?
Few mutations in GJB2, GJB6 or GJA1 genes among other populations of African ancestry
As in previous studies in Africans, [17] African Americans and Caribbean Hispanics with GJB6 mutations, [19] we did not find either the GJB6-D13S1830 deletion or coding region changes.
From our analysis, there is no evidence that mutations in GJB2, GJB6 or GJA1 are associated with non-syndromic deafness in sub-Saharan African patients.
In search of genetic markers for nonsyndromic deafness in Africa: A study in Cameroonians and black South Africans with the GJB6 and GJA1 candidate genes.
Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.