ITGA3 encodes integrin subunit alpha 3 (1,051 aa). Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Highest expression in Artery Tibial (186.8 TPM) and Artery Aorta (178.4 TPM).

Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome is caused by mutations in the ITGA3 gene on chromosome 17.

ITGA3 is classified as a druggable target (Cell Surface, Druggable Genome, and External Side Of Plasma Membrane categories) with score 0.0.

Genetic testing for ITGA3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.

3 publications have been identified in PubMed for epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome. Research spans Basic Science / Preclinical (67%) and Epidemiology / Natural History (33%).

Recent Publications

• Chateau A (2025). [PMID: 40369731](https://pubmed.ncbi.nlm.nih.gov/40369731/). *International journal of dermatology*. [Epidemiology / Natural History]

• Xuan W (2025). [PMID: 40945909](https://pubmed.ncbi.nlm.nih.gov/40945909/). *The American journal of pathology*. [Basic Science / Preclinical]

• Dermitzakis I (2024). [PMID: 39194704](https://pubmed.ncbi.nlm.nih.gov/39194704/). *Current issues in molecular biology*. [Basic Science / Preclinical]