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Reviewed August 2013
What is the official name of the LARGE gene?
The official name of this gene is “like-glycosyltransferase.”
LARGE is the gene's official symbol. The LARGE 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 LARGE gene?
The LARGE gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the LARGE protein adds chains of sugar molecules composed of xylose and glucuronic acid to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Does the LARGE gene share characteristics with other genes?
The LARGE gene belongs to a family of genes called glycosyltransferase family 8 domain containing (glycosyltransferase family 8 domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the LARGE gene related to health conditions?
Where is the LARGE gene located?
Cytogenetic Location: 22q12.3
Molecular Location on chromosome 22: base pairs 33,272,522 to 33,920,475
The LARGE gene is located on the long (q) arm of chromosome 22 at position 12.3.
More precisely, the LARGE gene is located from base pair 33,272,522 to base pair 33,920,475 on chromosome 22.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LARGE?
You and your healthcare professional may find the following resources about LARGE 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 LARGE 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 LARGE?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.