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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]
[中文简述(自动翻译):]  由该基因编码的蛋白质是内耳的非细胞膜的一个组成部分。的直系同源小鼠基因的破坏表明它在听觉和前庭功能的作用。它参与纤维状网络组织,otoconial膜的锚定和cupulae到神经上皮,并有可能在声音刺激抗性。突变这个基因导致常染色体隐性遗传非综合征耳聋,类型18B。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的,2014年5月提供]
OTOG基因(以及对应的蛋白质)的细胞分布位置:
OTOG基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
DEAFNESS, AUTOSOMAL RECESSIVE 18B | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
Parkinson Disease | 0.002367032 | 1 | 1 | GAD |
Cerebrovascular accident | 0.002367032 | 1 | 1 | GAD |
Conductive hearing loss | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
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