Genetic Test
The LAMP3 (Lysosomal Associated Membrane Protein 3) gene encodes a protein that is localized to the membrane of lysosomes—organelles responsible for breaking down cellular waste and recycling materials within the cell. This lysosomal membrane protein plays an important role in cell-to-cell interactions and contributes to immune responses by participating in the recognition and processing of antigens.
This genetic test specifically targets a single LAMP3 gene mutation that has been associated with interstitial lung disease, a group of disorders characterized by progressive scarring of lung tissue that can impair respiratory function.
Disease Description
The lungs are composed of alveoli, which are directly responsible for gas exchange, and the interstitium, the supportive tissue that surrounds and connects the alveoli.
In interstitial lung disease, the interstitium becomes abnormally thickened due to inflammation and progressive fibrosis. As this scarring process advances, the lungs gradually become stiff and less compliant.
This stiffening reduces lung volume and impairs the lungs’ ability to efficiently exchange oxygen and carbon dioxide, ultimately leading to respiratory dysfunction.
