insulin receptor
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The INSR gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to the hormone insulin circulating in the bloodstream. Insulin plays many roles in the body, including regulating blood glucose levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy.
Normal function
The INSR gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to the hormone insulin circulating in the bloodstream. Insulin plays many roles in the body, including regulating blood glucose levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy.
The insulin receptor is initially produced as a single long protein that must be processed by being cut (cleaved) into four parts: two alpha subunits and two beta subunits. These subunits work together as a functioning receptor. The alpha subunits stick out from the surface of the cell, while the beta subunits remain inside the cell. The alpha subunits attach (bind) to insulin, which causes the beta subunits to trigger signaling pathways within the cell that influence many cell functions.
Conditions referring to this gene or chromosome
Other names
CD220
HHF5
insulin receptor isoform Long preproprotein
insulin receptor isoform Short preproprotein
IR
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Leitura adicional e referências
- insulin receptor; MedlinePlus, National Library of Medicine.
- Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetol. 2013 Dec;50(6):951-7. doi: 10.1007/s00592-013-0490-x. Epub 2013 Jul 4.
- Hubbard SR. The insulin receptor: both a prototypical and atypical receptor tyrosine kinase. Cold Spring Harb Perspect Biol. 2013 Mar 1;5(3):a008946. doi: 10.1101/cshperspect.a008946.
- Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet. 2002 Jun 1;11(12):1465-75. doi: 10.1093/hmg/11.12.1465.
- Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC. Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7. doi: 10.1210/jc.2003-030034.
- Semple RK, Savage DB, Cochran EK, Gorden P, O'Rahilly S. Genetic syndromes of severe insulin resistance. Endocr Rev. 2011 Aug;32(4):498-514. doi: 10.1210/er.2010-0020. Epub 2011 May 2.
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