Proinsulin Protein, Human (His)

Proinsulin Protein, encoded by this gene, is the precursor of insulin, a crucial peptide hormone that plays a pivotal role in regulating carbohydrate and lipid metabolism. Following the removal of the precursor signal peptide, proinsulin undergoes post-translational cleavage, generating three peptides: the B chain and A chain peptides, which covalently link to form insulin, and C-peptide. The binding of insulin to the insulin receptor (INSR) stimulates glucose uptake, a process integral to metabolic homeostasis. Various mutant alleles with diverse phenotypic effects, such as insulin-dependent diabetes mellitus, permanent neonatal diabetes mellitus, maturity-onset diabetes of the young type 10, and hyperproinsulinemia, have been identified. Notably, expression of this gene is predominantly restricted to the pancreas, emphasizing its central role in glucose regulation and metabolism within pancreatic tissues. Additionally, a read-through gene, INS-IGF2, overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region, further contributing to the complexity of regulatory mechanisms in this genomic locus.