SFTPB

Surfactant protein B (SFTPB) is a protein that in humans is encoded by the SFTPB gene. This protein is crucial for normal respiratory function and is a component of the pulmonary surfactant system.

Function

Surfactant protein B is essential for the proper functioning of the lungs. It plays a critical role in reducing surface tension in the alveoli, preventing their collapse during exhalation. This protein is part of the complex mixture of lipids and proteins that make up the pulmonary surfactant, which is secreted by type II alveolar cells.

Clinical significance

Mutations in the SFTPB gene can lead to surfactant metabolism dysfunction, which is associated with respiratory distress syndrome in newborns. This condition is characterized by the inability to produce adequate surfactant, leading to severe breathing difficulties. Genetic testing can identify mutations in the SFTPB gene, which can be crucial for diagnosis and management of affected individuals.

Genetics

The SFTPB gene is located on the short arm of chromosome 2 (2p11.2). It is expressed primarily in the lungs, where it is involved in the synthesis of surfactant protein B. The gene is regulated by various transcription factors that respond to developmental and environmental cues.

Research

Research on surfactant protein B includes studies on its role in lung development, its involvement in lung diseases, and potential therapeutic applications. Understanding the function and regulation of SFTPB can provide insights into the treatment of respiratory disorders.

See also

• Surfactant metabolism dysfunction
• Respiratory distress syndrome
• Pulmonary surfactant

External links

• SFTPB gene - NCBI
• SFTPB - Genetics Home Reference