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INS gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

INS gene

The INS gene provides instructions for producing insulin, a hormone essential for regulating blood glucose levels in the body.

Normal Function

The INS gene provides instructions for producing the hormone insulin, which is made and secreted by specialized cells in the pancreas called beta cells. Insulin helps move glucose, also called blood sugar, from the blood into cells, where it is converted into energy. Glucose is a simple sugar and the primary energy source for most cells in the body.

The precursor to insulin is called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called A and B chains. These chains are joined together by connections called disulfide bonds to form insulin.

Health Conditions Related to Genetic Changes

Permanent neonatal diabetes mellitus

Variants (also called mutations) in the INS gene can cause permanent neonatal diabetes mellitus, a form of diabetes that typically appears within the first 6 months after birth and continues throughout life. In approximately 20 to 25 percent of people with this condition, it is caused by variants in the INS gene.

Many of these variants lead to the substitution of one amino acid for another in the proinsulin molecule. These changes disrupt the cleavage of proinsulin or the binding of the A and B chains, which reduces the amount of insulin produced by the beta cells and impairs blood glucose control.

Maturity-onset diabetes of the young

MedlinePlus Genetics provides information about Maturity-onset diabetes of the young.

Type 1 diabetes

MedlinePlus Genetics provides information about Type 1 diabetes.

Other disorders

Variants in the INS gene may also cause hyperproinsulinemia. The signs and symptoms of this disorder can include increased levels of proinsulin in the blood and impaired blood glucose control. The variants associated with this condition cause cells to make proinsulin molecules that are not properly converted to insulin, leading to a buildup of proinsulin in the blood.

Other Names for This Gene

  • IDDM1
  • IDDM2
  • proinsulin

Frequently Asked Questions

The majority of INS mutations that cause neonatal diabetes are de novo, meaning they arise spontaneously and are not present in either parent. In these cases, the recurrence risk for another child is low (≈1 %). If a parent is found to carry the same INS variant (rare autosomal‑dominant inheritance), each subsequent child has a 50 % chance of inheriting the mutation and may develop diabetes. Genetic counseling is recommended to clarify the inheritance pattern for each family.
Yes. Infants who develop diabetes before 6 months of age should be evaluated for monogenic causes, including INS gene mutations, because the result guides treatment (e.g., some forms respond to oral sulfonylureas) and informs recurrence risk for future pregnancies. Genetic testing is usually done by sending a blood sample for a targeted diabetes gene panel or whole‑exome sequencing, often through a pediatric endocrinology clinic or a genetics laboratory.
Most children with INS‑related permanent neonatal diabetes require insulin therapy because the mutation reduces the amount of functional insulin the pancreas can produce. However, the dose is often lower than in typical type 1 diabetes, and some patients may achieve good control with insulin pumps or continuous glucose monitoring. Research is ongoing to see if any specific INS variants respond to sulfonylureas, but insulin remains the standard of care today.
Yes. If a pathogenic INS variant has been identified in a parent, prenatal diagnostic options such as chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) can be used to test fetal DNA for the specific mutation. Non‑invasive prenatal testing (NIPT) does not currently detect single‑gene mutations reliably, so invasive testing is required for definitive results.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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