GJB1

GJB1 is a gene that provides instructions for making a protein called connexin 32. This protein is found in the peripheral nervous system, where it forms channels (gap junctions) that allow ions and other small molecules to move from one cell to another. The movement of ions through these channels helps coordinate the activity of the cells. Mutations in the GJB1 gene can cause a form of Charcot-Marie-Tooth disease known as X-linked Charcot-Marie-Tooth disease type 1 (CMTX1).

Function

The GJB1 gene provides instructions for making a protein called connexin 32. This protein is found in the peripheral nervous system, where it forms channels (gap junctions) that allow ions and other small molecules to move from one cell to another. The movement of ions through these channels helps coordinate the activity of the cells.

Clinical significance

Mutations in the GJB1 gene can cause a form of Charcot-Marie-Tooth disease known as X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). This condition affects the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Most mutations change single protein building blocks (amino acids) in connexin 32, which alters the structure and function of the protein. As a result, the protein cannot form functional gap junctions. Without these channels, cells in the peripheral nerves cannot communicate effectively, leading to the signs and symptoms of CMTX1.

See also

• Charcot-Marie-Tooth disease
• Gap junction
• Peripheral nervous system

References

GJB1 Resources
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