GJB7

GJB7 is a gene that encodes a member of the gap junction protein family. The gap junction proteins, also known as connexins, are an integral part of the cell membrane that facilitate the communication between cells in a direct and selective manner.

Function

The protein encoded by the GJB7 gene is a part of the connexin family and is also known as connexin 25 (Cx25). Connexins are integral membrane proteins that form gap junction channels, allowing ions and small molecules to pass between adjacent cells. This intercellular communication is crucial for many physiological processes, including cell growth, differentiation, and homeostasis.

Clinical significance

Mutations in the GJB7 gene have been associated with hearing loss. Specifically, a mutation in this gene has been linked to a form of non-syndromic sensorineural hearing loss, which is a type of hearing loss that results from damage to the inner ear or the nerve pathways from the inner ear to the brain.

See also

• Gap junction
• Connexin
• Hearing loss

References

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