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Beschreibung

The protein Cochlin/COCH is important in the development of the cochlea and vestibule in mammals as well as other functions. Cochlin/COCH is an extracellular matrix protein that plays a role in cell shape, positioning and motility. Recent research shows that it is also important in our innate immune response to bacteria and pathogens. Upon bacterial infection, a fragment of Cochlin/COCH is released from the conduits of B cell follicles in the spleen and this triggers protective cytokines in the periphery. Cochlin/COCH is expressed in epithelial tissues in various tissues, particularly in follicular cells and network of conduits in the spleen and lymph nodes. Cochlin/COCH also is a target for BMP4 mediation in embryonic stem cells (ESCs) where it facilitates self-renewal. The protein also appears to suppress neural differentiation of ESCs and suggests that Cochlin/COCH protein is important in ES cell fate determination. Mutations in the Cochlin/COCH gene are responsible for human DFNA9 syndrome, a disorder characterized by neurodegeneration of the inner ear that leads to hearing loss and vestibular impairments.