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Official Full Name: insulin
Also known as: IDDM; ILPR; IRDN; IDDM1; IDDM2; PNDM4; MODY10
This gene encodes insulin, a peptide hormone that plays a crucial role in regulating carbohydrate and lipid metabolism. 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 by two disulfide bonds to form insulin, and the C-peptide. Insulin binds to the insulin receptor (INSR) to stimulate glucose uptake. Numerous mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes, permanent neonatal diabetes, young type 10 diabetes, and hyperinsulinemia. There is one readable gene, INS-IGF2, which overlaps this gene in the 5' region and the IGF2 gene in the 3' region.