ITGA3 and respiratory system disorder: Human ITGA3 mutations cause congenital nephrotic syndrome, epidermolysis bullosa, and interstitial lung disease, also known as NEP syndrome.[33] Alanine to serine substitution and ITGA3 glycosylation mutation of the integrin α3 subunit prevent the biosynthesis of functional α3β1 and cause fatal interstitial lung disease.[34] These suggest that the ITGA3 gene may have important significance in the treatment and diagnosis of respiratory diseases.