Gene: SFTPB

Alternate names for this Gene: PSP-B|SFTB3|SFTP3|SMDP1|SP-B

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p11.2

Description of this Gene: surfactant protein B

Type of Gene: protein-coding

rs1130866 in SFTPB gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs137853202 in SFTPB gene and Surfactant Metabolism Dysfunction, Pulmonary, 1 PMID 7491219 1995 Partial deficiency of surfactant protein B in an infant with chronic lung disease.

PMID 21965505 2011 Interstitial lung disease in a child heterozygous for the 1549C-->GAA (121ins2) mutation of surfactant protein B.

PMID 23625987 2013 Genetic testing in children with surfactant dysfunction.

PMID 26199800 2015 Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.

PMID 8163685 1994 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.