|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Genes in this family provide instructions for making enzymes that act as (or are predicted to act as) glycosyltransferases. Glycosyltransferases modify proteins by adding sugar molecules to them through a process called glycosylation. The sugar is transferred from one protein, called the donor, to another, called the acceptor. Some glycosyltransferases glycosylate themselves.
Glycosylation is critical for the normal function of the acceptor protein. For example, the LARGE protein, produced from a gene in this family, glycosylates a protein called alpha (α)-dystroglycan, which anchors cells in the correct position. Without glycosylation, α-dystroglycan loses its ability to anchor cells, which impairs normal muscle, brain, and eye development and leads to a severe condition called Walker-Warburg syndrome. Glycosylation by enzymes produced from other genes in this family is important for the storage of energy and cellular signaling.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of this member of the glycosyltransferase family 8 domain containing gene family: LARGE.
Genetics Home Reference includes these conditions related to genes in the glycosyltransferase family 8 domain containing gene family:
You may find the following resources about the glycosyltransferase family 8 domain containing gene family helpful.
domain ; gene ; glycosylation ; protein ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
These sources were used to develop the Genetics Home Reference summary for the glycosyltransferase family 8 domain containing gene family.
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.