SFTPC Antibody

Background:

This gene encodes the pulmonary-associated surfactantprotein C (SPC), an extremely hydrophobic surfactant proteinessential for lung function and homeostasis after birth. Pulmonarysurfactant is a surface-active lipoprotein complex composed of 90%lipids and 10% proteins which include plasma proteins andapolipoproteins SPA, SPB, SPC and SPD. The surfactant is secretedby the alveolar cells of the lung and maintains the stability ofpulmonary tissue by reducing the surface tension of fluids thatcoat the lung. Multiple mutations in this gene have beenidentified, which cause pulmonary surfactant metabolism dysfunctiontype 2, also called pulmonary alveolar proteinosis due tosurfactant protein C deficiency, and are associated withinterstitial lung disease in older infants, children, and adults.Alternatively spliced transcript variants encoding differentprotein isoforms have been identified.