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Glycosyltransferase family 8 domain containing gene family
Reviewed August 2013
What are the glycosyltransferase family 8 domain containing genes?
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.
Which genes are included in the glycosyltransferase family 8 domain containing gene family?
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene
Genetics Home Reference summarizes the normal function and health implications of this member of the glycosyltransferase family 8 domain containing gene family: LARGE.
What conditions are related to genes in the glycosyltransferase family 8 domain containing gene family?
Genetics Home Reference includes these conditions related to genes in the glycosyltransferase family 8 domain containing gene family:
Where can I find additional information about the glycosyltransferase family 8 domain containing gene family?
You may find the following resources about the glycosyltransferase family 8 domain containing gene family helpful.
Where can I find general information about genes and gene families?
The Handbook provides basic information about genetics in clear language.
What glossary definitions help with understanding the glycosyltransferase family 8 domain containing gene family?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 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.