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INS

INS

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.

Read more about gene names and symbols on the About page.

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.

Genetics Home Reference provides information about type 1 diabetes, which is also associated with changes in the INS gene.

Where is the INS gene located?

Cytogenetic Location: 11p15.5

Molecular Location on chromosome 11: base pairs 2,159,778 to 2,161,208

The INS gene is located on the short (p) arm of chromosome 11 at position 15.5.

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 2,159,778 to base pair 2,161,208 on chromosome 11.

See How do geneticists indicate the location of a gene? 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.

What other names do people use for the INS gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding INS?

acids ; diabetes ; diabetes mellitus ; gene ; glucose ; hereditary ; hormone ; hyperglycemia ; insulin ; neonatal ; precursor ; protein ; protein sequence ; simple sugar

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (12 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2013
Published: October 27, 2014