LDL receptor related protein 2
Ultimo aggiornamento 12 Apr 2023
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L LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. Megalin has many ligands involved in various body processes, including the absorption of vitamins A and D, immune functioning, stress response, and the transport of fats in the bloodstream.
Normal function
L LRP2 gene provides instructions for making a protein called megalin, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. Megalin has many ligands involved in various body processes, including the absorption of vitamins A and D, immune functioning, stress response, and the transport of fats in the bloodstream.
Megalin is embedded in the membrane of cells that line the surfaces and cavities of the body (epithelial cells). The receptor helps move its ligands from the cell surface into the cell (endocytosis), and is also involved in transporting the ligands of a related receptor called cubulin. Megalin is active in the development and function of many parts of the body, including the brain and spinal cord (central nervous system), eyes, ears, lungs, intestine, reproductive system, and the small tubes in the kidneys where urine is formed (renal tubules).
Conditions referring to this gene or chromosome
Altri nomi
calcium sensor protein
DBS
glycoprotein 330 (gp330)
gp330
Heymann nephritis antigen homolog
low density lipoprotein receptor-related protein 2
LRP2_HUMAN
megalin
Related patient information and medicines
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Ulteriori letture e riferimenti
- LDL receptor related protein 2; MedlinePlus, National Library of Medicine.
- Christensen EI, Birn H. Megalin and cubilin: multifunctional endocytic receptors. Nat Rev Mol Cell Biol. 2002 Apr;3(4):256-66. doi: 10.1038/nrm778.
- Christensen EI, Nielsen R. Role of megalin and cubilin in renal physiology and pathophysiology. Rev Physiol Biochem Pharmacol. 2007;158:1-22. doi: 10.1007/112_0604.
- Fisher CE, Howie SE. The role of megalin (LRP-2/Gp330) during development. Dev Biol. 2006 Aug 15;296(2):279-97. doi: 10.1016/j.ydbio.2006.06.007. Epub 2006 Jun 8.
- Holt SK, Karyadi DM, Kwon EM, Stanford JL, Nelson PS, Ostrander EA. Association of megalin genetic polymorphisms with prostate cancer risk and prognosis. Clin Cancer Res. 2008 Jun 15;14(12):3823-31. doi: 10.1158/1078-0432.CCR-07-4566.
- Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug;39(8):957-9. doi: 10.1038/ng2063. Epub 2007 Jul 15.
- Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 Jul 15;146A(14):1842-7. doi: 10.1002/ajmg.a.32381.
- Mii A, Nakajima T, Fujita Y, Iino Y, Kamimura K, Bujo H, Saito Y, Emi M, Katayama Y. Genetic association of low-density lipoprotein receptor-related protein 2 (LRP2) with plasma lipid levels. J Atheroscler Thromb. 2007 Dec;14(6):310-6. doi: 10.5551/jat.e494. Epub 2007 Dec 17.
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