Reviewed March 2013
What is the official name of the INS gene?
The official name of this gene is “insulin.”
INS is the gene's official symbol. The INS gene is also known by other names, listed below.
What is the normal function of the INS gene?
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.
How are changes in the INS gene related to health conditions?
- permanent neonatal diabetes mellitus - caused by mutations in the INS gene
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.
- other disorders - caused by mutations in the INS gene
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.
Where is the INS gene located?
Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 2,159,779 to 2,161,209
The INS gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the INS gene is located from base pair 2,159,779 to base pair 2,161,209 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about INS?
You and your healthcare professional may find the following resources about INS helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28INS%5BTI%5D%29%20OR%20%28insulin%5BTI%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20review%5Bpt%5D%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- INSULIN (http://omim.org/entry/176730)
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (http://omim.org/entry/613370)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_INS.html)
- HGNC Gene Family: Endogenous ligands (http://www.genenames.org/cgi-bin/genefamilies/set/542)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=6081)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3630)
What other names do people use for the INS gene or gene products?
- insulin preproprotein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding INS?
diabetes mellitus ;
protein sequence ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20226046?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18162506?dopt=Abstract)
- OMIM: INSULIN (http://omim.org/entry/176730)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20948967?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20724178?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18192540?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3630)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/18171712?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21054355?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/17855560?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20938745?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/19395706?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.