🧬 基因注释：OTOG
📝 官方信息
官方名称：otogelin
功能摘要：The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录