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In the pancreatic beta-cell, glucokinase is a key regulator enzyme. Glucokinase is very important in the regulation of insulin secretion and has been known as the pancreatic beta-cell sensor. Mutations in the gene encoding glucokinase can cause both hyperglycemia and hypoglycemia because of its central role in the regulation of insulin release ...
The abnormal gene "dominates" the pair of genes. If just one parent has a dominant gene defect, each child has a 50% chance of inheriting the disorder. This type of MODY demonstrates the common circulation but complex interplay between maternal and fetal metabolism and hormone signals in the determination of fetal size.
GKRP binds and moves glucokinase (GK), thereby controlling both activity and intracellular location [1] [2] of this key enzyme of glucose metabolism. [3] GKRP is a 68 kD protein of 626 amino acids. It is coded for by a 19 exon gene, GCKR, on the short arm of chromosome 2 (2p23). GKRP was discovered by Emile van Schaftingen and reported in 1989 [4]
Several of the defects are mutations of transcription factor genes. One form is due to mutations of the glucokinase gene. For each form of MODY, multiple specific mutations involving different amino acid substitutions have been discovered. In some cases, there are significant differences in the activity of the mutant gene product that ...
In beta cells, insulin release is stimulated primarily by glucose present in the blood. [4] As circulating glucose levels rise such as after ingesting a meal, insulin is secreted in a dose-dependent fashion. [4] This system of release is commonly referred to as glucose-stimulated insulin secretion (GSIS). [10]
The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008].
Much like the original incident that caused Adaline's eternal youth condition at the beginning of the movie, it's another freak accident that leads to its reverse in the end.
Hexokinase I, also known as hexokinase A and HK1, is an enzyme that in humans is encoded by the HK1 gene on chromosome 10. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of ...