Abstract:Gap Junction Beta 2 (GJB2) gene mutations are the leading causes of hereditary hearing impairment. This gene encodes various gap junction proteins such as connexin 26 (Cx26), which facilitate K + homeostasis inside the cochlea in the inner ear. It is as well identified in non-syndromic deafness, which is not accompanied with other abnormalities in the body and contributes to 75% of the cases. The protein connexin 26 is composed of four transmembrane helices and two extracellular loops, in which each has three … Show more
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