SFTPC

This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Feb 2010]

Description

Surfactant protein C

Tissue specificity

Tissue enriched (lung)

Predicted location

Intracellular, Secreted in other tissues

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

8 (22156913 - 22164479)

Ensembl ID

ENSG00000168484  (ver. 103.38)

Orthologs

Mouse Sftpc: ENSMUSG00000022097

UniProt

P11686

neXtProt

NX_P11686

Human splice variants
Mouse splice variants

Protein structure