蛋白质/抗原/多肽 >> 重组蛋白
重组耳聋,常染色体隐性遗传22蛋白
半岛bd体育手机客户端 介绍
基因名:
OTOA 半岛bd体育手机客户端 别名: CT108; DFNB22; OTOA; otoancorin; otoancorin; otoancorin; cancer/testis antigen 108; 耳聋、常染色体隐性遗传22; 背景信息:
Otoancorin, also known as OTOA, CT108 or DFNB22, is a 1,153 amino acid protein belonging to the stereocilin family. Expressed in the inner ear and restricted to the interface between the apical surface of sensory epithelia, otoancorin is suggested to act as an adhesion molecule. Otoancorin ensures the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in the gene encoding otoancorin leads to deafness autosomal recessive type 22 (DFNB22), which 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. Existing as three alternatively spliced isoforms, otoancorin is encoded by a gene located on human chromosome 16p12.2.
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