连接蛋白26：正常听觉功能所必需。
Connexin 26: required for normal auditory function.
作者信息
Kelley P M, Cohn E, Kimberling W J
机构信息
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA.
出版信息
Brain Res Brain Res Rev. 2000 Apr;32(1):184-8. doi: 10.1016/s0165-0173(99)00080-6.
A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders.
编码间隙连接蛋白连接蛋白26的基因（GJB2/DFNB1）（OMIM 121011/220290）中的单碱基缺失突变35delG，是欧美人群遗传性听力损失最重要的单一病因。它是最常见的人类遗传疾病之一的病因，其发病率与囊性纤维化相似。这种连接蛋白的突变与皮肤疾病有关。
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