GJB3

At least 15 GJB3 gene mutations have been identified in people with erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by areas of hyperkeratosis, which is abnormally thickened skin, and temporarily reddened patches called erythematous areas. Each of these mutations changes a single protein building block (amino acid) in connexin 31. Studies suggest that the abnormal protein produced from certain GJB3 gene mutations can build up in a cell structure called the endoplasmic reticulum (ER), triggering a harmful process known as ER stress. Researchers suspect that ER stress damages cells in the epidermis and leads to their premature death. Other GJB3 gene mutations result in the production of abnormal proteins that may form channels that do not function properly, which may also lead to premature cell death in the epidermis. In addition, abnormal connexin 31 proteins may interact with other connexin proteins, preventing the formation or function of other types of gap junctions. The mechanisms by which epidermal damage and cell death contribute to hyperkeratosis and erythematous areas are poorly understood.

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