Insulin ist ein Gen, das durch das Symbol INS kodiert wird. Es ist auch bekannt als INS. Insulin hat eine Masse von 11.98kDa, eine Aminosäurelänge von 110, und ist an folgenden Krankheiten beteiligt: Hyperproinsulinemia; Diabetes mellitus, insulin-dependent, 2; Diabetes mellitus, permanent neonatal; Maturity-onset diabetes of the young 10.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver.
Entrez Zusammenfassung
After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants.
Rolle bei Krankheiten
Hyperproinsulinemia: An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
Diabetes mellitus, insulin-dependent, 2: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Diabetes mellitus, permanent neonatal: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.
Maturity-onset diabetes of the young 10: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Sequenzähnlichkeiten
Belongs to the insulin family.
