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INS gene

insulin
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Normal Function

The INS gene provides instructions for producing the hormone insulin, which is necessary for the control of glucose levels in the blood. Glucose is a simple sugar and the primary energy source for most cells in the body.

Insulin is produced in a precursor form 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 the A and B chains, which are joined together by connections called disulfide bonds to form insulin.

Health Conditions Related to Genetic Changes

Permanent neonatal diabetes mellitus

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 sugar (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 sugar control.

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Maturity-onset diabetes of the young

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

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Type 1 diabetes

MedlinePlus Genetics provides information about Type 1 diabetes

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Other disorders

Mutations in the INS gene can also cause other disorders involving insulin production and blood sugar control. Some individuals with INS gene mutations have increased levels of proinsulin in their blood (hyperproinsulinemia) and may also have impaired blood sugar 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.

Other Names for This Gene

  • IDDM2
  • ILPR
  • INS_HUMAN
  • insulin preproprotein
  • IRDN
  • MODY10
  • proinsulin

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T. Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42. Citation on PubMed or Free article on PubMed Central
  • Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27. Citation on PubMed
  • Liu M, Haataja L, Wright J, Wickramasinghe NP, Hua QX, Phillips NF, Barbetti F, Weiss MA, Arvan P. Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport. PLoS One. 2010 Oct 11;5(10):e13333. doi: 10.1371/journal.pone.0013333. Erratum in: PLoS One. 2010;5(10) doi: 10.1371/annotation/6d5e12f2-defc-48b5-84f6-43253f593a2a. Citation on PubMed or Free article on PubMed Central
  • Liu M, Hodish I, Haataja L, Lara-Lemus R, Rajpal G, Wright J, Arvan P. Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth. Trends Endocrinol Metab. 2010 Nov;21(11):652-9. doi: 10.1016/j.tem.2010.07.001. Epub 2010 Aug 18. Review. Citation on PubMed or Free article on PubMed Central
  • Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group, Bell GI, Njølstad PR. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11. Citation on PubMed
  • Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2. Citation on PubMed
  • Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi: 10.1111/j.1365-2362.2010.02409.x. Epub 2010 Nov 4. Review. Citation on PubMed
  • Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12. Citation on PubMed or Free article on PubMed Central
  • Støy J, Steiner DF, Park SY, Ye H, Philipson LH, Bell GI. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep;11(3):205-15. doi: 10.1007/s11154-010-9151-3. Review. Erratum in: Rev Endocr Metab Disord. 2012 Mar;13(1):79-81. Citation on PubMed or Free article on PubMed Central
  • Weiss MA. Proinsulin and the genetics of diabetes mellitus. J Biol Chem. 2009 Jul 17;284(29):19159-63. doi: 10.1074/jbc.R109.009936. Epub 2009 Apr 24. Review. Citation on PubMed or Free article on PubMed Central
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