SFTPB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SFTPB wild-type allele is located in the vicinity of 2p11.2 and is approximately 11 kb in length. This allele, which encodes pulmonary surfactant-associated protein B, is involved in respiratory airway homeostasis. Mutations in the gene are associated with pulmonary surfactant metabolism dysfunction type 1 (pulmonary alveolar proteinosis due to surfactant protein B deficiency).

**Synonyms:** - PSP-B - Pulmonary Surfactant-Associated Protein, 18-kD Gene - SFTB3 - SFTP3 - SMDP1 - SP-B - Surfactant Protein B wt Allele - Surfactant, Pulmonary-Associated Protein B Gene - Surfactant-Associated Protein, Pulmonary, 3 Gene