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ALMS1

ALMS1

Alstrom syndrome 1

What is the normal function of the ALMS1 gene?

The ALMS1 gene makes a protein whose function is not yet known. Researchers believe that the protein may be involved in the body's regulation of sugar and could play a role in hearing, sight, obesity, and heart and liver function. The ALMS1 protein is present in many different types of tissue, usually at low levels.

What conditions are related to the ALMS1 gene?

Alström syndrome - caused by mutations in the ALMS1 gene

At least 10 mutations in the ALMS1 gene have been identified in people with Alström syndrome. These mutations lead to an abnormally short ALMS1 protein that does not function properly. Researchers propose that a loss of ALMS1 function in the brain leads to overeating, while a loss of gene function in the pancreas causes insulin resistance (a sign of type 2 diabetes). This combination of effects may prevent the body from effectively handling excess sugar, leading to diabetes and obesity (two common features of Alström syndrome). It is not yet known how ALMS1 mutations cause the other signs and symptoms of Alström syndrome. The protein is present in most tissues in the body, which may help explain why the disorder affects nearly every organ.

Where is the ALMS1 gene located?

2p13

The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13.

The ALMS1 gene is located on the short (p) arm of chromosome 2 at position 13.

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

Where can I find information about ALMS1?

You and your healthcare professional may find the following resources about ALMS1 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 ALMS1 gene or gene products?

  • ALSS
  • KIAA0328

See How are genetic conditions and genes named? in the Handbook.

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 ALMS1?

diabetes ; gene ; insulin ; mutation ; overeating ; protein ; sign ; symptom

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

 
Sources for this page (4 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.
 
Last Comprehensive Review: August 2004
Updated: August 19, 2004
Published: October 8, 2004
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