| 别名 | DFNA5;ICERE1;Non-syndromic hearing impairment protein 5;Inversely correlated with estrogen receptor expression 1;ICERE-1 |
| 基因名称 | DFNA5 |
| 蛋白名称 | Non-syndromic hearing impairment protein 5 |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat, |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 1687 |
| Human Swissprot No. | O60443 |
| Mouse Swissprot No. | Q9Z2D3 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:5000； |
| 参考分子量 | MW(Observed):55kD |
| 预测分子量 | MW(Calculated):55kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Membrane, Cytoplasm |
| 功能 | Disease:Defects in DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,similarity:Belongs to the gasdermin family.,tissue specificity:Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Membrane, Cytoplasm |
| 组织表达 | Expressed in cochlea (PubMed:9771715). Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta (PubMed:9771715). |
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