Aliases for SFTPB Gene
External Ids for SFTPB Gene
Previous HGNC Symbols for SFTPB Gene
Previous GeneCards Identifiers for SFTPB Gene
This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
GeneCards Summary for SFTPB Gene
SFTPB (Surfactant Protein B) is a Protein Coding gene. Diseases associated with SFTPB include Surfactant Metabolism Dysfunction, Pulmonary, 1 and Respiratory Distress Syndrome In Premature Infants. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Diseases of metabolism. An important paralog of this gene is PSAP.
UniProtKB/Swiss-Prot Summary for SFTPB Gene
Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter.