|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “sucrase-isomaltase (alpha-glucosidase).”
SI is the gene's official symbol. The SI gene is also known by other names, listed below.
The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is found in the intestinal tract, where it is involved in breaking down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). Sucrose and maltose are called disaccharides because they are each made up of two simple sugar molecules. Disaccharides must be broken down into simple sugar molecules to be digested properly.
The sucrase-isomaltase enzyme is found on the surface of the intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. The role of the sucrase-isomaltase enzyme is to break down sucrose and maltose into simple sugars so that they can be absorbed by microvilli into intestinal epithelial cells.
At least 10 mutations in the SI gene have been found to cause congenital sucrase-isomaltase deficiency. These mutations disrupt the folding and processing of the sucrose-isomaltase enzyme, transportation of the enzyme within the intestinal epithelial cells, the orientation of the enzyme to the cell surface, or its normal functioning. An impairment in any of these cell processes results in a sucrase-isomaltase enzyme that cannot effectively break down sucrose, maltose, or other compounds made from these sugar molecules (carbohydrates). The inability to digest these sugars causes the intestinal discomfort seen in people with congenital sucrase-isomaltase deficiency.
Cytogenetic Location: 3q25.2-q26.2
Molecular Location on chromosome 3: base pairs 164,978,892 to 165,078,494
The SI gene is located on the long (q) arm of chromosome 3 between positions 25.2 and 26.2.
More precisely, the SI gene is located from base pair 164,978,892 to base pair 165,078,494 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about SI helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
brush border ; cell ; congenital ; deficiency ; enzyme ; epithelial ; gene ; intestine ; microvilli ; simple sugar
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.