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This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
[中文简述(自动翻译):]  该基因编码一个多功能的肌动蛋白捆绑。它在调节机构,尺寸,动力和信号的肌动蛋白丝丰富,微绒毛型专业调解各种mechanosensory和化学感受细胞的感官转导能力的重大作用。在这个基因的突变与常染色体隐性遗传性耳聋感觉神经,和常染色体显性遗传耳聋无前庭受累相关。 [由RefSeq的,2009年11月提供]
ESPN基因(以及对应的蛋白质)的细胞分布位置:
ESPN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT | 0.36 | 1 | 0 | CLINVAR_CTD_human_UNIPROT |
Deafness | 0.12 | 2 | 0 | CTD_human |
Vestibular Diseases | 0.12 | 1 | 0 | CTD_human |
Deafness, Autosomal Recessive 36, Without Vestibular Involvement | 0.12 | 0 | 0 | CLINVAR |
hearing impairment | 0.0054487 | 2 | 0 | LHGDN |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Melanocytic nevus | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Usher Syndrome | 0.000271442 | 1 | 0 | BeFree |
Usher Syndrome, Type II | 0.000271442 | 1 | 0 | BeFree |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | 0.000271442 | 1 | 0 | BeFree |
Nonsyndromic Deafness | 0.000271442 | 1 | 0 | BeFree |
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