Asymmetric Unit. Macromolecule Content Total Structure Weight: This is version 1. Putnam, C. Hide Full Abstract. Reference Sequence. Small Molecules. View more in-depth experimental data. Revision History Full details and data files Version 1. Homo sapiens. Protein Feature View Expand. A shortage of this enzyme can allow hydrogen peroxide to build up to toxic levels in certain cells. For example, hydrogen peroxide produced by bacteria in the mouth may accumulate in and damage soft tissues, leading to mouth ulcers and gangrene.
A buildup of hydrogen peroxide may also damage beta cells of the pancreas, which release a hormone called insulin that helps control blood sugar. Malfunctioning beta cells are thought to underlie the increased risk of type 2 diabetes in people with acatalasemia. It is unclear why some people have no health problems associated with a shortage of catalase activity. A related condition called hypocatalasemia occurs when only one of the two copies of the CAT gene in each cell has a mutation.
This single mutation reduces the activity of catalase by approximately half. Like acatalasemia, hypocatalasemia usually does not cause any health problems. Common variations polymorphisms in the CAT gene and in regions of DNA that regulate the gene's activity may be associated with the risk of developing certain common, complex diseases.
For example, researchers are studying these polymorphisms as potential risk factors for type 2 diabetes and other disorders of blood sugar regulation. CAT gene polymorphisms may also be associated with high blood pressure hypertension , a skin condition called vitiligo, thinning of the bones osteoporosis , and elevated levels of cholesterol and other fats lipids in the blood, which increase the risk of heart attack and stroke.
However, it is unclear how polymorphisms in the CAT gene impact catalase activity, and how changes in the activity of this enzyme might influence a person's risk of developing these diseases. A large number of genetic and lifestyle factors, many of which remain unknown, likely determine the risk of developing most common, complex conditions.
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CAT gene catalase. From Genetics Home Reference. Normal Function The CAT gene provides instructions for making pieces subunits of an enzyme called catalase. Health Conditions Related to Genetic Changes Acatalasemia At least 13 mutations in the CAT gene have been found to cause acatalasemia, a condition characterized by very low catalase activity. More About This Health Condition.
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