ITGA7

Description

The ITGA7 gene encodes the alpha 7 subunit of the integrin protein family, playing a crucial role in cell adhesion, migration, and signaling. Integrins are transmembrane receptors that mediate interactions between cells and the extracellular matrix (ECM), influencing various cellular processes like development, tissue repair, and immune responses. ITGA7 is particularly involved in the formation of hemidesmosomes, specialized cell-ECM junctions that anchor epithelial cells to the underlying basement membrane. Mutations in the ITGA7 gene can lead to several inherited skin disorders, affecting the structural integrity and function of the epidermis.

Associated Diseases

• Epidermolysis bullosa
• Junctional epidermolysis bullosa (JEB)
• Herlitz JEB
• Kindler syndrome
• Generalized atrophic benign epidermolysis bullosa

Did you know?

ITGA7 is expressed in a variety of tissues, including skin, heart, lungs, and kidneys, highlighting its diverse functions in different organ systems.