人 COCH 抗体对
01AB01661
Cochlin (COCH) is the most abundant non-collagenous extracellular matrix glycoprotein in the inner ear, specifically within the cochlea and vestibular organs. It contains an N-terminal LCCL domain and two von Willebrand factor A (vWFA) domains, which facilitate interactions with collagen and other matrix components to maintain structural organization and mechanosensation. In addition to its structural role, cochlin is produced by follicular dendritic cells, where the proteolytic processing of its LCCL domain contributes to innate immune responses. Pathogenic variants in the COCH gene cause the autosomal dominant sensorineural hearing loss DFNA9 and the autosomal recessive form DFNB110. These conditions are characterized by progressive hearing loss and vestibular dysfunction, often associated with the accumulation of cochlin-rich deposits in the inner ear.
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技术参数
- 靶点基因名
- COCH
- 基因别名
- COCH5B2
- 蛋白别名
- cochlin; COCH
- UniProt
- O43405
- 物种
- Human
产品详情
- 靶点名称
- COCH
- 蛋白名称
- cochlin
- 蛋白别名
- Cochlin; COCH-5B2
- 靶点基因名
- COCH
- 基因别名
- COCH5B2
- UniProt
- O43405
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cochlin (COCH) is the most abundant non-collagenous extracellular matrix glycoprotein in the inner ear, specifically within the cochlea and vestibular organs. It contains an N-terminal LCCL domain and two von Willebrand factor A (vWFA) domains, which facilitate interactions with collagen and other matrix components to maintain structural organization and mechanosensation. In addition to its structural role, cochlin is produced by follicular dendritic cells, where the proteolytic processing of its LCCL domain contributes to innate immune responses. Pathogenic variants in the COCH gene cause the autosomal dominant sensorineural hearing loss DFNA9 and the autosomal recessive form DFNB110. These conditions are characterized by progressive hearing loss and vestibular dysfunction, often associated with the accumulation of cochlin-rich deposits in the inner ear.