ITGB4

ITGB4 is a gene that in humans encodes the protein known as integrin subunit beta 4. This protein is a member of the integrin family and is involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells.

Structure

The ITGB4 protein is a type of transmembrane protein that spans the entire cell membrane. It is composed of a large extracellular domain, a single transmembrane domain, and a short cytoplasmic tail. The extracellular domain is responsible for binding to other cells or to the extracellular matrix, while the cytoplasmic tail interacts with proteins inside the cell to trigger various signaling pathways.

Function

ITGB4 plays a crucial role in the formation of hemidesmosomes, structures that anchor epithelial cells to the underlying basement membrane. This is particularly important in the skin, where it helps to maintain the integrity of the epidermis and prevent blistering. Mutations in the ITGB4 gene can lead to a rare genetic disorder known as Epidermolysis bullosa, characterized by fragile skin that blisters easily.

Clinical significance

Research has shown that ITGB4 is overexpressed in several types of cancer, including breast cancer, lung cancer, and colorectal cancer. This overexpression is often associated with increased tumor aggressiveness and poor prognosis. Therefore, ITGB4 is being studied as a potential target for cancer therapy.

See also

• Integrin
• Epidermolysis bullosa
• Transmembrane protein

References

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