GJB3 gene
The GJB3 gene encodes the connexin 31 protein, which is critical for skin cell maturation and appears to play a role in the hearing process.
Normal Function
The GJB3 gene provides instructions for making a protein called gap junction beta 3, commonly known as connexin 31. This protein forms gap junctions that regulate the flow of nutrients, ions, and signaling molecules between cells. Connexin 31 is found in the epidermis, where it supports cell growth and maturation, and in the inner ear, where it is involved in hearing.
Health Conditions Related to Genetic Changes
Erythrokeratodermia variabilis et progressiva
Mutations in the GJB3 gene have been identified in individuals with erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by:
- Hyperkeratosis: Abnormally thickened skin.
- Erythematous areas: Temporarily reddened patches of skin.
Research suggests that these mutations lead to the production of abnormal connexin 31 proteins that may accumulate in the endoplasmic reticulum (ER), causing "ER stress" and premature cell death in the epidermis. Other mutations may result in non-functional channels or interfere with the formation of other types of gap junctions, further contributing to epidermal damage.
Other Names for This Gene
- connexin 31
- CX31
- CXB3_HUMAN
- DFNA2
- gap junction protein, beta 3, 31kDa
- PNHI