surfactant protein C
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L SFTPC gene provides instructions for making a protein called surfactant protein-C (SP-C). This protein is one of four proteins (each produced from a different gene) in surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together after exhalation (because of a force called surface tension), causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired. Surfactant lowers surface tension, easing breathing and avoiding lung collapse. The SP-C protein helps spread the surfactant across the surface of the lung tissue, aiding in the surface tension-lowering property of surfactant.
Normal function
L SFTPC gene provides instructions for making a protein called surfactant protein-C (SP-C). This protein is one of four proteins (each produced from a different gene) in surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together after exhalation (because of a force called surface tension), causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired. Surfactant lowers surface tension, easing breathing and avoiding lung collapse. The SP-C protein helps spread the surfactant across the surface of the lung tissue, aiding in the surface tension-lowering property of surfactant.
The phospholipids and proteins that make up surfactant are packaged in cellular structures known as lamellar bodies, which are found in specialized lung cells. The surfactant proteins must go through several processing steps to mature and become functional; some of these steps occur in lamellar bodies.
Conditions referring to this gene or chromosome
Altri nomi
BRICD6
PSP-C
PSPC_HUMAN
pulmonary surfactant apoprotein-2 SP-C
pulmonary surfactant-associated protein C
pulmonary surfactant-associated proteolipid SPL(Val)
SFTP2
SMDP2
SP-C
SP5
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Ulteriori letture e riferimenti
- surfactant protein C; MedlinePlus, National Library of Medicine.
- Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, Reix P, Flamein F, Clement A, Feldmann D. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet. 2009 Jul;46(7):490-4. doi: 10.1136/jmg.2009.066829. Epub 2009 May 13.
- Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu FF, Wert SE, Gonzales LW, Beers MF, Ballard PL. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol. 2004 Jun;30(6):771-6. doi: 10.1165/rcmb.2003-0323OC. Epub 2003 Dec 4.
- Mulugeta S, Maguire JA, Newitt JL, Russo SJ, Kotorashvili A, Beers MF. Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms. Am J Physiol Lung Cell Mol Physiol. 2007 Sep;293(3):L720-9. doi: 10.1152/ajplung.00025.2007. Epub 2007 Jun 22.
- Weaver TE. Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta. 1998 Nov 19;1408(2-3):173-9. doi: 10.1016/s0925-4439(98)00066-0.
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