Integrin beta 4

Integrin beta-4 (ITGB4) is a protein that in humans is encoded by the ITGB4 gene. Integrins are transmembrane receptors that facilitate cell-extracellular matrix (ECM) adhesion. They are heterodimeric proteins consisting of alpha and beta subunits. The beta-4 subunit is unique in that it pairs with the alpha-6 subunit to form the α6β4 integrin, which is primarily expressed in epithelial cells.

Function

Integrin beta-4 plays a critical role in the formation and maintenance of hemidesmosomes, which are structures that anchor epithelial cells to the basement membrane. This integrin is involved in signal transduction pathways that regulate cell survival, proliferation, and migration. It is particularly important in the skin, where it helps maintain the integrity of the epidermis.

Clinical significance

Mutations in the ITGB4 gene can lead to epidermolysis bullosa, a group of genetic conditions that result in fragile skin that blisters easily. The α6β4 integrin is also implicated in the progression of certain cancers, as it can influence tumor cell behavior and metastasis.

Interactions

Integrin beta-4 interacts with several proteins, including:

• Plectin, a cytoskeletal linker protein that connects integrins to the intermediate filament network.
• Erbin, a protein that associates with the cytoplasmic domain of integrin beta-4 and is involved in cell signaling.

See also

• Integrin
• Cell adhesion
• Epidermolysis bullosa

External links

• Template:GeneReviews
• Online Mendelian Inheritance in Man (OMIM) 147557