This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of 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 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, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. 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. [From RefSeq]

The INS gene is located on the short arm of chromosome 11 and spans a length of 1.5 kb of DNA. Its coding sequence is contained within 3 exons and it encodes an 11.9 kDa protein product made up of 110 amino acids. An additional isoform consisting of 200 amino acids exists due to alternative splicing. The gene is overexpressed in the Islet of Langerhans cells of the pancreas. Most mutations detected in INS associated with Type 1 diabetes, PNDM, Hyperproinsulinemia or MODY10 are missense variants. Around 10 mutations in the gene have been implicated in PNDM