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Reviewed February 2013
What is the official name of the GBE1 gene?
The official name of this gene is “glucan (1,4-alpha-), branching enzyme 1.”
GBE1 is the gene's official symbol. The GBE1 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 GBE1 gene?
The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the last step of the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Glycogen is made up of many molecules of a simple sugar called glucose; some glucose molecules are linked together in a straight line, while others branch off the main line and form side chains. The glycogen branching enzyme is involved in the formation of these side chains. The branched structure of glycogen makes it more compact for storage and allows it to break down more easily when it is needed for fuel.
How are changes in the GBE1 gene related to health conditions?
Where is the GBE1 gene located?
Cytogenetic Location: 3p12.3
Molecular Location on chromosome 3: base pairs 81,489,699 to 81,761,799
The GBE1 gene is located on the short (p) arm of chromosome 3 at position 12.3.
More precisely, the GBE1 gene is located from base pair 81,489,699 to base pair 81,761,799 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GBE1?
You and your healthcare professional may find the following resources about GBE1 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 GBE1 gene or gene products?
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 GBE1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.