SFTPC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SFTPC wild-type allele is located the vicinity of 8p21.3 and is approximately 8 kb in length. This allele, which encodes pulmonary surfactant-associated protein C, is involved in lung function and homeostasis. Mutation of the gene is associated with pulmonary surfactant metabolism dysfunction type 2 (pulmonary alveolar proteinosis due to surfactant protein C deficiency).

**Synonyms:** - BRICD6 - BRICHOS Domain Containing 6 Gene - PSP-C - SFTP2 - SMDP2 - SP-C - SP5 - Surfactant Protein C wt Allele - Surfactant, Pulmonary-Associated Protein C Gene - Surfactant-Associated, Pulmonary, 2 Gene