GJB2


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GJB2

Notation for a gene for DFNA3 and the gene for DFNB1.

GJB2

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

Molecular pathology
GJB2 mutations are linked to as many as 50% of pre-lingual recessive deafness, and specifically Bart-Pumphrey syndrome.
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References in periodicals archive ?
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
Jason Bosch completed his MSc in human genetics on the project, with molecular analysis of the GJB2 and GJA1 genes, and Kamogelo Lebeko did all the experiments on the GJB6 gene for her honours degree in human genetics.
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.
High-throughput screening for GJB2 mutations- its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.
Molecular basis of childhood deafness resulting from mutations in the GJB2 (Connexin 26) gene.
Functional study of GJB2 in hereditary hearing loss.