GJB4

GJB4 or Gap Junction Protein Beta 4 is a protein that in humans is encoded by the GJB4 gene. It is a member of the connexin family of proteins, which form gap junctions and facilitate direct communication between cells. Mutations in this gene have been associated with erythrokeratodermia variabilis et progressiva, a skin disorder.

Function

GJB4 encodes a member of the gap junction protein family. The gap junction proteins, also known as connexins, are made up of four transmembrane, two extracellular, and three cytoplasmic domains. Connexins form gap junction channels that facilitate the transfer of ions and small molecules between cells. For cardiac and smooth muscle contraction, cell growth and differentiation, connexins play an important role.

Clinical significance

Mutations in the GJB4 gene have been associated with erythrokeratodermia variabilis et progressiva, a skin disorder characterized by red patches of skin that vary in size, shape, and location. The condition can also progress over time, leading to thickened skin.

See also

• Connexin
• Gap junction
• Erythrokeratodermia variabilis et progressiva

References

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External links

• NCBI Gene
• GHR - GJB4

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