INS

At least 10 mutations in the INS gene have been identified in people with permanent neonatal diabetes mellitus. Individuals with this condition often have a low birth weight and develop increased blood glucose (hyperglycemia) within the first 6 months of life.

INS gene mutations that cause permanent neonatal diabetes mellitus change single protein building blocks (amino acids) in the protein sequence. These mutations are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood glucose control.

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Mutations in the INS gene can also cause other disorders involving insulin production and blood glucose control. Some individuals with INS gene mutations have increased levels of proinsulin in their blood (hyperproinsulinemia) and may also have impaired blood glucose control. INS gene mutations are also associated with a disorder called maturity-onset diabetes of the young (MODY). This term refers to hereditary forms of relatively mild diabetes mellitus caused by changes in single genes.