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Protein Page:
SFTPC (human)

SFTPC Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. Defects in SFTPC are the cause of pulmonary surfactant metabolism dysfunction type 2 (SMDP2); also called pulmonary alveolar proteinosis due to surfactant protein C deficiency. A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Genetic variations in SFTPC are a cause of susceptibility to respiratory distress syndrome in premature infants (RDS); also known as RDS in prematurity. RDS is a lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Lipid-binding
Chromosomal Location of Human Ortholog: 8p21
Cellular Component: clathrin-coated endocytic vesicle; endoplasmic reticulum membrane; extracellular region; lamellar body
Molecular Function: protein binding
Biological Process: cellular protein metabolic process
Disease: Pulmonary Fibrosis, Idiopathic; Surfactant Metabolism Dysfunction, Pulmonary, 2
Reference #:  P11686 (UniProtKB)
Alt. Names/Synonyms: PSP-C; PSPC; pulmonary surfactant apoprotein-2 SP-C; Pulmonary surfactant-associated protein C; Pulmonary surfactant-associated proteolipid SPL(Val); SFTP2; SFTPC; SMDP2; SP-C; SP5; surfactant protein C
Gene Symbols: SFTPC
Molecular weight: 21,053 Da
Basal Isoelectric point: 6.19  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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