GJB5
GJB5 or Gap Junction Protein Beta 5 is a protein that in humans is encoded by the GJB5 gene. It is a member of the connexin family of proteins, which play a crucial role in the formation of gap junctions.
Function[edit | edit source]
Connexin proteins, such as GJB5, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of two 'hemichannels', each of which contains six connexins. The GJB5 gene is expressed in skin and hair follicle cells.
Clinical Significance[edit | edit source]
Mutations in the GJB5 gene have been associated with erythrokeratodermia variabilis (EKV), a skin disorder characterized by transient figurate red patches or hyperkeratosis.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- GJB5 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD
