GJB6 Gene

GJB6 (GJB6 is the acronym for gap junction protein beta 6) is a protein-coding gene located on chromosome 13q12.11. GJB6 encodes connexin 30, a member of the gap junction protein family. Mutaitons in the GJB2 gene are associated with several diseases.

Diseases associated with GJB6 include:

• Hidrotic ectodermal dysplasia (Clouston syndrome)

and

• Autosomal dominant non-syndromic deafness 3B (non-syndromic sensorineural hearing loss characterized by a variable phenotype ranging from bilateral mid to high frequency hearing loss to profound sensorineural hearing loss (Zaidieh Tet al. 2015; Bademci G et al. 2020).

An important paralogue of this gene is GJB2.

1. Beyer EC et al. (2018) Gap junction gene and protein families: connexins, innexins and pannexins. Biochim. Biophys Acta Biomembr 1860: 5-8. Pandya A, O'Brien A, Kovasala M,
2. Bademci G et al. (2020) Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families. Mol Genet Genomic Med 8:e1171.
3. Wu X et al. (2019) Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies. Front Cell Neurosci. 13: 529.
4. Xu J et al. (2013) The role of connexins in ear and skin physiology - Functional insights from disease-associated mutation. Biomembranes 1828:167-178
5. Zaidieh Tet al (2015) Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment. Genet Test Mol Biomarkers 19:405-407.