Sandbox GGC7: Difference between revisions
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A mutation of Glu 111 in the active site will render the enzyme inactive or a mutation at Pro 286 will slow down the enzymatic activity. A low functioning or inactive insulin degrading enzyme will allow the buildup of both insulin and amyloid beta-proteins. | A mutation of Glu 111 in the active site will render the enzyme inactive or a mutation at Pro 286 will slow down the enzymatic activity. A low functioning or inactive insulin degrading enzyme will allow the buildup of both insulin and amyloid beta-proteins. | ||
For insulin, if it is allowed to build up, insulin resistance can occur and contribute to the development of type II diabetes <ref>doi.org/10.1016/S0002-9440(10)63229-4</ref>. A mutation at Asp 34 will cause Hyperproinsulinemia <ref>doi | For insulin, if it is allowed to build up, insulin resistance can occur and contribute to the development of type II diabetes <ref>doi.org/10.1016/S0002-9440(10)63229-4</ref>. A mutation at Asp 34 will cause Hyperproinsulinemia <ref>doi:10.1210/endo.135.2.8033810</ref><ref>doi:10.1212/01.wnl.0000140292.04932.87</ref>, a disease where the body secretes insulin before it has been fully processed (proinsulin) and so does not function properly. | ||
Several different mutations at birth or a young age can contribute to the onset of neonatal diabetes or type I diabetes. The locations are: Asp 24, Arg 32, Ser 32, Gly 43, Val 47, Cys 48, Cys 89, Cys 90, Tyr 96 and Cys 108. | Several different mutations at birth or a young age can contribute to the onset of neonatal diabetes or type I diabetes. The locations are: Asp 24, Arg 32, Ser 32, Gly 43, Val 47, Cys 48, Cys 89, Cys 90, Tyr 96 and Cys 108. | ||
