Analysis of SFTPB Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1685-LGZ)

Introduction

Official Full Name: surfactant protein B<br />Also known as: SP-B; PSP-B; SFTB3; SFTP3; SMDP1<br />This gene encodes lung-associated surfactant protein B (SPB), an amphipathic surfactant protein critical for postnatal lung function and homeostasis. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipid and 10% protein, including plasma proteins and apolipoproteins SPA, SPB, SPC, and SPD. Surfactants are secreted by the alveolar cells of the lungs and maintain the stability of lung tissue by lowering the surface tension of the fluid covering the lungs. SPB enhanced the diffusion rate and stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified that cause pulmonary surfactant metabolic dysfunction type 1, also known as alveolar proteinosis, due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternative splice transcript variants encoding the same protein have been identified.